Variant #0000648967 (NC_000014.8:g.74766869C>G, ABCD4(NM_005050.3):c.141G>C)

Individual ID 00291110
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.74766869C>G
DNA change (hg38) g.74300166C>G
Published as -
ISCN -
DB-ID ABCD4_000027
Variant remarks 13 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs147446660
Origin Germline
Segregation -
Frequency 13/2793 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00067 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.141G>C r.(?) p.(Leu47Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292278 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq