ClinVar

NM_006494.4(ERF):c.1191C>T (p.Ala397=)

Gene:

ERF:ETS2 repressor factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 42248921 (on Assembly GRCh38)
• Chr19: 42753073 (on Assembly GRCh37)

Preferred name:

NM_006494.4(ERF):c.1191C>T (p.Ala397=)

HGVS:

• NC_000019.10:g.42248921G>A
• NG_042802.1:g.11244C>T
• NM_001301035.2:c.966C>T
• NM_001308402.2:c.966C>T
• NM_001312656.2:c.966C>T
• NM_006494.4:c.1191C>TMANE SELECT
• NP_001287964.1:p.Ala322=
• NP_001295331.1:p.Ala322=
• NP_001299585.1:p.Ala322=
• NP_006485.2:p.Ala397=
• NC_000019.9:g.42753073G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001301035.2:c.966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308402.2:c.966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001312656.2:c.966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006494.4:c.1191C>T - synonymous variant - [Sequence Ontology: SO:0001819]