NOTE: for testing purposes only, database under construction !.
LOVD - Variant listings for ABCB7

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11 public entries
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?/? 07 c.941G>A - r.(?) p.Arg314Gln ABCB7_00004 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Tarpey 2009 DNA SEQ - - MRX - - Raymond:Cambridge ? ? unknown - - - - 1
+/? 09 c.1203T>G 1200T>G, I400M r.(?) p.Ile401Met ABCB7_00001 - - (OMIM 0001), Allikmets 1999 DNA SSCA;SEQ - - ASAT - 3-generation family, 4 affected males 9 carrier females Pagan 1985 US European American familial - - - - 4
+/? 09 c.1203T>G 1200T>G, I400M r.(?) p.Ile401Met ABCB7_00001 - 0/600 (OMIM 0001), Allikmets 1999 DNA SSCA;SEQ - - control - - - US European American unknown - - - - 1
+/? 09 c.1203T>G 1200T>G, I400M r.(?) p.Ile401Met ABCB7_00001 cloned in yeast ATM1 (V365M), partial loss of function (reduced growth rate iron limiting conditions) - (OMIM 0001), Allikmets 1999 DNA SEQ - - in vitro - - - - - unknown - - - - 1
+/? 10 c.1234G>C 1299G>C, V411L r.1234g>c p.Val412Leu ABCB7_00003 - - (OMIM 0003), Maguire 2001 DNA, RNA RT-PCR;SEQ MaeI- - ASAT - 4 affected males - UK Europe, North familial - - - - 4
+/? 10 c.1234G>C 1299G>C, V411L r.(?) p.Val412Leu ABCB7_00003 - 0/200 (OMIM 0003), Maguire 2001 DNA SEQ MaeI- - control - - - - ? unknown - - - - 1
+/? 10 c.1300G>A G1305A, E433K r.(?) p.Glu344Lys ABCB7_00002 - - (OMIM 0002), Bekri 2000 DNA PCR;SEQ BsmAI- - ASAT - family, 2 affected males - - Caucasian familial - - - - 2
+/? 10 c.1300G>A G1305A, E433K r.(?) p.Glu344Lys ABCB7_00002 - 0/120 (OMIM 0002), Bekri 2000 DNA PCR;SEQ BsmAI- - control - - - - Caucasian unknown - - - - 1
+?/? 10 c.1300G>A G1305A, E433K r.(?) p.Glu344Lys ABCB7_00002 cloned in yeast ATM1 (Atm1p D398K), reduced cytosolic Fe/S protein maturation - (OMIM 0002), Bekri 2000 DNA PCR;SEQ - - in vitro - - - - Caucasian unknown - - - - 1
?/? 10 c.1323T>C p.D441D r.(?) p.= ABCB7_00005 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Tarpey 2009 DNA SEQ - - MRX - - Raymond:Cambridge ? ? unknown - - - - 1
?/? 10 c.1323T>C p.D441D r.(?) p.= ABCB7_00005 - - dbSNP-rs45598734 DNA SEQ - - control - - Raymond:Cambridge ? ? unknown - - - - 1
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NOTE: for testing purposes only, database under construction !.


Legend: [ ABCB7 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9 DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Var_pub_as: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. ABCB7 DB-ID: BD-ID = database IDentifier Variant remarks: Variant remarks Frequency: Frequency if variant is non pathogenic. Reference: Reference = reference to publication describing variant Template: Detection_Template do not use: do not use Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Genetic origin: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Phenotype additional: Phenotype, additional features Remarks: Remarks Reference: Reference describing the phenotype Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Age_exam: age at which the individual was examined; 4y8m = 4 years and 8 months Age_onset: age at which the disease became evident; 4y8m = 4 years and 8 months MR: MR # Reported: Number of times this case has been reported


NOTE: for testing purposes only, database under construction !.