Variant #0000848417 (NC_000001.10:g.185984327A>G, NM_031935.2:c.4667A>G (HMCN1))

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.185984327A>G
DNA change (hg38) -
Published as HMCN1(NM_031935.2):c.4667A>G (p.D1556G)
ISCN -
DB-ID HMCN1_000107
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 15:40:45 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HMCN1 NM_031935.2 ?/. - c.4667A>G r.(?) p.(Asp1556Gly)


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