ClinVar

NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.3

Genomic location:

• Chr5: 90716722 (on Assembly GRCh38)
• Chr5: 90012539 (on Assembly GRCh37)

Preferred name:

NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)

HGVS:

• NC_000005.10:g.90716722G>A
• NG_007083.2:g.192379G>A
• NM_032119.4:c.9440G>AMANE SELECT
• NP_115495.3:p.Arg3147Gln
• LRG_1095t1:c.9440G>A
• LRG_1095:g.192379G>A
• LRG_1095p1:p.Arg3147Gln
• NC_000005.9:g.90012539G>A
• NM_032119.3:c.9440G>A
• NR_003149.2:n.9456G>A
• c.9440G>A

This HGVS expression did not pass validation

Protein change:

R3147Q

Links:

dbSNP: rs200792658

NCBI 1000 Genomes Browser:

rs200792658

Molecular consequence:

• NM_032119.4:c.9440G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_003149.2:n.9456G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]