ClinVar

NM_007315.4(STAT1):c.884C>A (p.Thr295Lys)

Gene:

STAT1:signal transducer and activator of transcription 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

• Chr2: 190995121 (on Assembly GRCh38)
• Chr2: 191859847 (on Assembly GRCh37)

Preferred name:

NM_007315.4(STAT1):c.884C>A (p.Thr295Lys)

HGVS:

• NC_000002.12:g.190995121G>T
• NG_008294.1:g.24130C>A
• NM_001384880.1:c.884C>A
• NM_001384881.1:c.890C>A
• NM_001384882.1:c.884C>A
• NM_001384883.1:c.785C>A
• NM_001384884.1:c.890C>A
• NM_001384885.1:c.785+2735C>A
• NM_001384886.1:c.884C>A
• NM_001384887.1:c.884C>A
• NM_001384888.1:c.884C>A
• NM_001384889.1:c.884C>A
• NM_001384890.1:c.794C>A
• NM_001384891.1:c.920C>A
• NM_007315.4:c.884C>AMANE SELECT
• NM_139266.3:c.884C>A
• NP_001371809.1:p.Thr295Lys
• NP_001371810.1:p.Thr297Lys
• NP_001371811.1:p.Thr295Lys
• NP_001371812.1:p.Thr262Lys
• NP_001371813.1:p.Thr297Lys
• NP_001371815.1:p.Thr295Lys
• NP_001371816.1:p.Thr295Lys
• NP_001371817.1:p.Thr295Lys
• NP_001371818.1:p.Thr295Lys
• NP_001371819.1:p.Thr265Lys
• NP_001371820.1:p.Thr307Lys
• NP_009330.1:p.Thr295Lys
• NP_644671.1:p.Thr295Lys
• LRG_111t1:c.884C>A
• LRG_111:g.24130C>A
• NC_000002.11:g.191859847G>T
• NM_007315.3:c.884C>A

This HGVS expression did not pass validation

Protein change:

T262K

Links:

dbSNP: rs2125062092

NCBI 1000 Genomes Browser:

rs2125062092

Molecular consequence:

• NM_001384885.1:c.785+2735C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384880.1:c.884C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384881.1:c.890C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384882.1:c.884C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384883.1:c.785C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384884.1:c.890C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384886.1:c.884C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384887.1:c.884C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384888.1:c.884C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384889.1:c.884C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384890.1:c.794C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384891.1:c.920C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007315.4:c.884C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_139266.3:c.884C>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

protein gain of function [Variation Ontology: 0040]

Observations:

1