Variant #0000806479 (NC_000014.8:g.74759072G>A, ABCD4(NM_005050.3):c.1036C>T)

Chromosome 14
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.74759072G>A
DNA change (hg38) -
Published as ABCD4(NM_020325.2):c.1036C>T (p.Q346*)
ISCN -
DB-ID ABCD4_000028
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) Variant not found in online data sets
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.1036C>T r.(?) p.(Gln346*)