Variant #0000373482 (NC_000005.9:g.90074880T>C, NM_032119.3:c.13048T>C (GPR98))
Individual ID |
00167766 |
Chromosome |
5 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.90074880T>C |
DNA change (hg38) |
g.90779063T>C |
Published as |
- |
ISCN |
- |
DB-ID |
GPR98_000293 |
Variant remarks |
heterozygous; mutation |
Reference |
PubMed: Jiang 2015; USMA-USMA missense analysis USMA-missense variant in MSV3d |
ClinVar ID |
- |
dbSNP ID |
rs760285250 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Anne-Françoise Roux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anne-Françoise Roux |
Date created |
2015-10-06 09:45:12 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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