ClinVar

NM_016556.4(PSMC3IP):c.280G>A (p.Val94Met)

Gene:

PSMC3IP:PSMC3 interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 42574156 (on Assembly GRCh38)
• Chr17: 40726174 (on Assembly GRCh37)

Preferred name:

NM_016556.4(PSMC3IP):c.280G>A (p.Val94Met)

HGVS:

• NC_000017.11:g.42574156C>T
• NG_029442.1:g.12097C>T
• NG_031960.1:g.8676G>A
• NM_001256014.2:c.91G>A
• NM_001256015.2:c.43G>A
• NM_001256016.2:c.43G>A
• NM_013290.7:c.280G>A
• NM_016556.4:c.280G>AMANE SELECT
• NP_001242943.1:p.Val31Met
• NP_001242944.1:p.Val15Met
• NP_001242945.1:p.Val15Met
• NP_037422.2:p.Val94Met
• NP_057640.1:p.Val94Met
• NC_000017.10:g.40726174C>T
• NR_045669.1:n.425G>A

This HGVS expression did not pass validation

Protein change:

V15M

Links:

dbSNP: rs140033860

NCBI 1000 Genomes Browser:

rs140033860

Molecular consequence:

• NM_001256014.2:c.91G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256015.2:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256016.2:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_013290.7:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016556.4:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_045669.1:n.425G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1