Variant #0000400936 (NC_000023.10:g.14627144T>C, GLRA2(NM_001118885.1):c.747T>C)

Individual ID 00173280
Chromosome X
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14627144T>C
DNA change (hg38) g.14609022T>C
Published as H249H
ISCN -
DB-ID GLRA2_000012 See all 3 reported entries
Variant remarks recurrent, found 65 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 65/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.25265 View details
Owner Lucy Raymond
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     
GLRA2 NM_001118885.1 -?/. 8 c.747T>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174163 DNA SEQ - - GPRASP2 1 Lucy Raymond