Variant #0000648966 (NC_000014.8:g.74756738G>A, ABCD4(NM_005050.3):c.1411C>T)

Individual ID 00291109
Chromosome 14
Allele Parent #1
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.74756738G>A
DNA change (hg38) g.74290035G>A
Published as -
ISCN -
DB-ID ABCD4_000026 See all 2 reported entries
Variant remarks 7 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs45568335
Origin Germline
Segregation -
Frequency 7/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00154 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCD4 NM_005050.3 ?/. - c.1411C>T r.(?) p.(Arg471Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292277 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq