ClinVar

NM_001079675.5(ETV4):c.619G>A (p.Ala207Thr)

Genes:

DHX8:DEAH-box helicase 8 [Gene - OMIM - HGNC]
ETV4:ETS variant transcription factor 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 43532866 (on Assembly GRCh38)
• Chr17: 41610234 (on Assembly GRCh37)

Preferred name:

NM_001079675.5(ETV4):c.619G>A (p.Ala207Thr)

HGVS:

• NC_000017.11:g.43532866C>T
• NM_001079675.5:c.619G>AMANE SELECT
• NM_001261437.3:c.502G>A
• NM_001261438.3:c.502G>A
• NM_001322219.2:c.3444-3546C>T
• NM_001369366.2:c.619G>A
• NM_001369367.2:c.616G>A
• NM_001369368.2:c.619G>A
• NM_001986.4:c.619G>A
• NP_001073143.1:p.Ala207Thr
• NP_001248366.1:p.Ala168Thr
• NP_001248367.1:p.Ala168Thr
• NP_001356295.1:p.Ala207Thr
• NP_001356296.1:p.Ala206Thr
• NP_001356297.1:p.Ala207Thr
• NP_001977.1:p.Ala207Thr
• NC_000017.10:g.41610234C>T
• NM_001079675.1:c.619G>A

This HGVS expression did not pass validation

Protein change:

A168T

Molecular consequence:

• NM_001322219.2:c.3444-3546C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001079675.5:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001261437.3:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001261438.3:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369366.2:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369367.2:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369368.2:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001986.4:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]