Variant #0000555119 (NC_000015.9:g.63988400G>C, NM_003922.3:c.5044C>G (HERC1))

Chromosome 15
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.63988400G>C
DNA change (hg38) g.63696201G>C
Published as HERC1(NM_003922.3):c.5044C>G (p.(Leu1682Val))
ISCN -
DB-ID HERC1_000036
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) 0.02618 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2022-05-09 15:51:19 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HERC1 NM_003922.3 -/. - c.5044C>G r.(?) p.(Leu1682Val)


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