ClinVar

NM_032119.4(ADGRV1):c.323C>G (p.Pro108Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.3

Genomic location:

• Chr5: 90617919 (on Assembly GRCh38)
• Chr5: 89913736 (on Assembly GRCh37)

Preferred name:

NM_032119.4(ADGRV1):c.323C>G (p.Pro108Arg)

HGVS:

• NC_000005.10:g.90617919C>G
• NG_007083.2:g.93576C>G
• NM_032119.4:c.323C>GMANE SELECT
• NP_115495.3:p.Pro108Arg
• LRG_1095t1:c.323C>G
• LRG_1095:g.93576C>G
• LRG_1095p1:p.Pro108Arg
• NC_000005.9:g.89913736C>G
• NM_032119.3:c.323C>G
• NR_003149.2:n.422C>G

This HGVS expression did not pass validation

Protein change:

P108R

Links:

dbSNP: rs1158908533

NCBI 1000 Genomes Browser:

rs1158908533

Molecular consequence:

• NM_032119.4:c.323C>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_003149.2:n.422C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1