ClinVar

NM_007144.3(PCGF2):c.938C>T (p.Ala313Val)

Genes:

CISD3:CDGSH iron sulfur domain 3 [Gene - OMIM - HGNC]
PCGF2:polycomb group ring finger 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 38735320 (on Assembly GRCh38)
• Chr17: 36891573 (on Assembly GRCh37)

Preferred name:

NM_007144.3(PCGF2):c.938C>T (p.Ala313Val)

HGVS:

• NC_000017.11:g.38735320G>A
• NG_139324.1:g.498G>A
• NM_001136498.2:c.*1865G>AMANE SELECT
• NM_001369614.1:c.938C>T
• NM_001369615.1:c.938C>T
• NM_007144.3:c.938C>TMANE SELECT
• NP_001356543.1:p.Ala313Val
• NP_001356544.1:p.Ala313Val
• NP_009075.1:p.Ala313Val
• NC_000017.10:g.36891573G>A
• NM_007144.2:c.938C>T

This HGVS expression did not pass validation

Protein change:

A313V

Links:

dbSNP: rs143182107

NCBI 1000 Genomes Browser:

rs143182107

Molecular consequence:

• NM_001136498.2:c.*1865G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001369614.1:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369615.1:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007144.3:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]