Variant #0000286803 (NC_000012.11:g.110012689C>T, NM_000431.2:c.62C>T (MVK))

Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.110012689C>T
DNA change (hg38) g.109574884C>T
Published as MVK(NM_000431.2):c.62C>T (p.A21V)
ISCN -
DB-ID MVK_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MVK NM_000431.2 +?/. - c.62C>T r.(?) p.(Ala21Val)
MMAB NM_052845.3 +?/. - c.-1404G>A r.(?) p.(=)


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