ClinVar

NM_003151.4(STAT4):c.2208A>T (p.Thr736=)

Genes:

STAT4-AS1:STAT4 antisense RNA 1 [Gene - HGNC]
STAT4:signal transducer and activator of transcription 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

• Chr2: 191030984 (on Assembly GRCh38)
• Chr2: 191895710 (on Assembly GRCh37)

Preferred name:

NM_003151.4(STAT4):c.2208A>T (p.Thr736=)

HGVS:

• NC_000002.12:g.191030984T>A
• NG_012852.1:g.125216A>T
• NM_001243835.2:c.2208A>T
• NM_003151.4:c.2208A>TMANE SELECT
• NP_001230764.1:p.Thr736=
• NP_003142.1:p.Thr736=
• NC_000002.11:g.191895710T>A
• NR_136318.1:n.130T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs779652985

NCBI 1000 Genomes Browser:

rs779652985

Molecular consequence:

• NR_136318.1:n.130T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001243835.2:c.2208A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003151.4:c.2208A>T - synonymous variant - [Sequence Ontology: SO:0001819]