ClinVar

NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)

Gene:

GPR179:G protein-coupled receptor 179 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 38327594 (on Assembly GRCh38)
• Chr17: 36483477 (on Assembly GRCh37)

Preferred name:

NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)

HGVS:

• NC_000017.11:g.38327594C>T
• NG_032655.2:g.21217G>A
• NM_001004334.4:c.5975G>AMANE SELECT
• NP_001004334.3:p.Gly1992Asp
• NP_001004334.3:p.Gly1992Asp
• NC_000017.10:g.36483477C>T
• NM_001004334.2:c.5975G>A
• NM_001004334.3:c.5975G>A

This HGVS expression did not pass validation

Protein change:

G1992D

Links:

dbSNP: rs200936863

NCBI 1000 Genomes Browser:

rs200936863

Molecular consequence:

• NM_001004334.4:c.5975G>A - missense variant - [Sequence Ontology: SO:0001583]