Variant #0000651084 (NC_000003.11:g.14172328G>A, NM_024334.2:c.169G>A (TMEM43))

Individual ID 00293227
Chromosome 3
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.14172328G>A
DNA change (hg38) g.14130828G>A
Published as -
ISCN -
DB-ID TMEM43_000041 See all 2 reported entries
Variant remarks 3 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs151010429
Origin Germline
Segregation -
Frequency 3/2795 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2021-09-06 09:26:59 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
TMEM43 NM_024334.2 ?/. - c.169G>A r.(?) p.(Ala57Thr) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294395 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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