Variant #0000873285 (NC_000004.11:g.46264140T>C, NM_000807.2:c.862A>G (GABRA2))

Individual ID 00414213
Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS (!)
DNA change (genomic) (Relative to hg19 / GRCh37) g.46264140T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID GABRA2_000005
Variant remarks ACMG: PM1, PM2_SUP, PP2, PP3; threonine at position 288 is located in the "transmembrane" domain of the GABRA2 protein and is highly conserved across many species. So far, only missense variants in highly conserved amino acids of this transmembrane domain have been detected in affected patients. The neighbouring amino acid exchanges p.Thr292Ile, p.Thr292Lys and p.Leu291Val have been described as pathogenic. No missense variants in this region of the protein (between amino acid positions 278 and 317) are described in the gnomAD population database
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2022-07-27 17:23:07 +02:00 (CEST)
Date last edited 2022-07-29 10:03:35 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GABRA2 NM_000807.2 ?/. 9 c.862A>G r.(?) p.(Thr288Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415493 DNA SEQ-NG-I - - GABRA2 1 Andreas Laner


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