Variant #0000323760 (NC_000014.8:g.74764696C>T, ABCD4(NM_005050.3):c.362G>A)

Chromosome 14
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.74764696C>T
DNA change (hg38) g.74297993C>T
Published as ABCD4(NM_005050.3):c.362G>A (p.(Arg121His))
ISCN -
DB-ID ABCD4_000011 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCD4 NM_005050.3 ?/. - c.362G>A r.(?) p.(Arg121His)