ClinVar

NM_001205.3(BNIP1):c.562C>T (p.Arg188Trp)

Gene:

BNIP1:BCL2 interacting protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.1

Genomic location:

• Chr5: 173163796 (on Assembly GRCh38)
• Chr5: 172590799 (on Assembly GRCh37)

Preferred name:

NM_001205.3(BNIP1):c.562C>T (p.Arg188Trp)

HGVS:

• NC_000005.10:g.173163796C>T
• NM_001205.3:c.562C>TMANE SELECT
• NM_013978.3:c.460C>T
• NM_013979.3:c.691C>T
• NM_013980.3:c.589C>T
• NP_001196.2:p.Arg188Trp
• NP_053581.2:p.Arg154Trp
• NP_053582.2:p.Arg231Trp
• NP_053583.2:p.Arg197Trp
• NC_000005.9:g.172590799C>T
• NM_013979.2:c.691C>T

This HGVS expression did not pass validation

Protein change:

R154W

Molecular consequence:

• NM_001205.3:c.562C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_013978.3:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_013979.3:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_013980.3:c.589C>T - missense variant - [Sequence Ontology: SO:0001583]