Variant #0001034726 (NC_000004.11:g.8873006C>A, NM_018942.2:c.335G>T (HMX1))

Chromosome 4
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.8873006C>A
DNA change (hg38) -
Published as HMX1(NM_018942.2):c.335G>T (p.G112V), HMX1(NM_018942.3):c.335G>T (p.(Gly112Val))
ISCN -
DB-ID HMX1_000022 See all 2 reported entries
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) 0.0003 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 2025-05-05 21:14:00 +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     
HMX1 NM_018942.2 ?/. - c.335G>T r.(?) p.(Gly112Val)


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