Variant #0000248670 (NC_000014.8:g.74766352A>G, ABCD4(NM_005050.3):c.184T>C)

Chromosome 14
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.74766352A>G
DNA change (hg38) g.74299649A>G
Published as ABCD4(NM_005050.4):c.184T>C (p.L62=)
ISCN -
DB-ID ABCD4_000012
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) 0.32522 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCD4 NM_005050.3 -/. - c.184T>C r.(?) p.(Leu62=)