ClinVar

NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)

Gene:

ADGRV1:adhesion G protein-coupled receptor V1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.3

Genomic location:

• Chr5: 90629418 (on Assembly GRCh38)
• Chr5: 89925235 (on Assembly GRCh37)

Preferred name:

NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)

HGVS:

• NC_000005.10:g.90629418G>T
• NG_007083.2:g.105075G>T
• NM_032119.4:c.1718G>TMANE SELECT
• NP_115495.3:p.Gly573Val
• LRG_1095t1:c.1718G>T
• LRG_1095:g.105075G>T
• LRG_1095p1:p.Gly573Val
• NC_000005.9:g.89925235G>T
• NM_032119.3:c.1718G>T
• NR_003149.2:n.1817G>T
• c.1718G>T

This HGVS expression did not pass validation

Protein change:

G573V

Links:

dbSNP: rs200789563

NCBI 1000 Genomes Browser:

rs200789563

Molecular consequence:

• NM_032119.4:c.1718G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_003149.2:n.1817G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]