ClinVar

NM_006494.4(ERF):c.248G>A (p.Arg83Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 42250340 (on Assembly GRCh38)
• Chr19: 42754492 (on Assembly GRCh37)

Preferred name:

NM_006494.4(ERF):c.248G>A (p.Arg83Gln)

HGVS:

• NC_000019.10:g.42250340C>T
• NG_042802.1:g.9825G>A
• NM_001301035.2:c.23G>A
• NM_001308402.2:c.23G>A
• NM_001312656.2:c.23G>A
• NM_006494.4:c.248G>AMANE SELECT
• NP_001287964.1:p.Arg8Gln
• NP_001295331.1:p.Arg8Gln
• NP_001299585.1:p.Arg8Gln
• NP_006485.2:p.Arg83Gln
• NC_000019.9:g.42754492C>T
• NM_006494.2:c.248G>A

This HGVS expression did not pass validation

Protein change:

R83Q

Links:

dbSNP: rs758855122

NCBI 1000 Genomes Browser:

rs758855122

Molecular consequence:

• NM_001301035.2:c.23G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308402.2:c.23G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001312656.2:c.23G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006494.4:c.248G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1