LOVD-CHM

LOVD - Variant listings for CHM

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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Location Hide Location column Descending
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Exon Hide Exon column Descending
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DNA change   Descending
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DNA old nomenclature Hide DNA old nomenclature column Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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Inheritance Hide Inheritance column Descending
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Variant remarks Hide Variant remarks column Descending
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Reference Hide Reference column Descending
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dbSNP/RFC Hide dbSNP/RFC column Descending
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Missense Hide Missense column Descending
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DB-ID Hide DB-ID column Descending
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Genomic DNA change Hide Genomic DNA change column Descending
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Exon 04 c.265A>T
  (Reported 7 times)
295C>T r.(?) p.(Ser89Cys) Hemizygous recurrent, found 5 times Tarpey et al., 2009 rs145707160 MSV3d CHM_00003 ChrX:g.85233820T>A
Exon 05 c.351A>G
  (Reported 2 times)
381A>G r.(?) p.(=) Hemizygous recurrent, found 28 times - A117A Tarpey et al., 2009 rs10217950 - CHM_00004 ChrX:g.85219021T>C
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Legend: [ CHM 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. Genomic Reference Sequence.
Location: Variant location at DNA level. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA old nomenclature: DNA old nomenclature for CHM. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Inheritance: Type of inheritance (e.g. heterozygous) Variant remarks: Integrates Classification: Neutral - UV1 (certainly neutral) - UV2 (likely neutral) - UV3 (likely pahtogenic) - UV4 (certainly pathogenic) - Pathogenic. Except for CHM where annotations concerning the effect of the variant are mentioned instead.

Reference: Reference describing the variation dbSNP/RFC: Accession number (rs) in dbSNP or link to reading frame checker Missense: Create a link for USMA and/or MSV3d CHM DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Genomic DNA change: Genomic DNA change following hg19