ClinVar

NM_012267.5(HSPBP1):c.974G>T (p.Cys325Phe)

Gene:

HSPBP1:HSPA (Hsp70) binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 55265309 (on Assembly GRCh38)
• Chr19: 55776677 (on Assembly GRCh37)

Preferred name:

NM_012267.5(HSPBP1):c.974G>T (p.Cys325Phe)

HGVS:

• NC_000019.10:g.55265309C>A
• NM_001130106.2:c.974G>T
• NM_001297600.2:c.1112G>T
• NM_012267.5:c.974G>TMANE SELECT
• NP_001123578.1:p.Cys325Phe
• NP_001284529.1:p.Cys371Phe
• NP_036399.3:p.Cys325Phe
• NC_000019.9:g.55776677C>A
• NM_012267.4:c.974G>T

This HGVS expression did not pass validation

Protein change:

C325F

Molecular consequence:

• NM_001130106.2:c.974G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297600.2:c.1112G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012267.5:c.974G>T - missense variant - [Sequence Ontology: SO:0001583]