Variant #0000261726 (NC_000014.8:g.74756803G>A, ABCD4(NM_005050.3):c.1346C>T)

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.74756803G>A
DNA change (hg38) g.74290100G>A
Published as ABCD4(NM_005050.3):c.1346C>T (p.T449M)
ISCN -
DB-ID ABCD4_000004
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCD4 NM_005050.3 ?/. - c.1346C>T r.(?) p.(Thr449Met)