ClinVar

NM_001374675.1(HSF4):c.1414A>G (p.Ile472Val)

Gene:

HSF4:heat shock transcription factor 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 67169720 (on Assembly GRCh38)
• Chr16: 67203623 (on Assembly GRCh37)

Preferred name:

NM_001374675.1(HSF4):c.1414A>G (p.Ile472Val)

HGVS:

• NC_000016.10:g.67169720A>G
• NG_009294.1:g.11336A>G
• NG_029566.1:g.4219A>G
• NM_001040667.3:c.1414A>G
• NM_001374674.1:c.1324A>G
• NM_001374675.1:c.1414A>GMANE SELECT
• NM_001538.4:c.1324A>G
• NP_001035757.1:p.Ile472Val
• NP_001361603.1:p.Ile442Val
• NP_001361604.1:p.Ile472Val
• NP_001529.2:p.Ile442Val
• NC_000016.9:g.67203623A>G
• NM_001538.3:c.1324A>G

This HGVS expression did not pass validation

Protein change:

I442V

Links:

dbSNP: rs201011907

NCBI 1000 Genomes Browser:

rs201011907

Molecular consequence:

• NM_001040667.3:c.1414A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374674.1:c.1324A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374675.1:c.1414A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001538.4:c.1324A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1