ClinVar

NM_031220.4(PITPNM3):c.826A>G (p.Ile276Val)

Gene:

PITPNM3:PITPNM family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 6478049 (on Assembly GRCh38)
• Chr17: 6381369 (on Assembly GRCh37)

Preferred name:

NM_031220.4(PITPNM3):c.826A>G (p.Ile276Val)

HGVS:

• NC_000017.11:g.6478049T>C
• NG_016020.1:g.83509A>G
• NM_001165966.2:c.718A>G
• NM_031220.4:c.826A>GMANE SELECT
• NP_001159438.1:p.Ile240Val
• NP_112497.2:p.Ile276Val
• NC_000017.10:g.6381369T>C
• NC_000017.10:g.6381369T>C
• NM_031220.3:c.826A>G

This HGVS expression did not pass validation

Protein change:

I240V

Links:

dbSNP: rs949951182

NCBI 1000 Genomes Browser:

rs949951182

Molecular consequence:

• NM_001165966.2:c.718A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_031220.4:c.826A>G - missense variant - [Sequence Ontology: SO:0001583]