ClinVar

NM_000222.3(KIT):c.2541G>A (p.Thr847=)

Gene:

KIT:KIT proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54736554 (on Assembly GRCh38)
• Chr4: 55602720 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.2541G>A (p.Thr847=)

HGVS:

• NC_000004.12:g.54736554G>A
• NG_007456.1:g.83560G>A
• NM_000222.3:c.2541G>AMANE SELECT
• NM_001093772.2:c.2529G>A
• NM_001385284.1:c.2544G>A
• NM_001385285.1:c.2538G>A
• NM_001385286.1:c.2526G>A
• NM_001385288.1:c.2532G>A
• NM_001385290.1:c.2541G>A
• NM_001385292.1:c.2529G>A
• NP_000213.1:p.Thr847=
• NP_000213.1:p.Thr847=
• NP_001087241.1:p.Thr843=
• NP_001372213.1:p.Thr848=
• NP_001372214.1:p.Thr846=
• NP_001372215.1:p.Thr842=
• NP_001372217.1:p.Thr844=
• NP_001372219.1:p.Thr847=
• NP_001372221.1:p.Thr843=
• LRG_307t1:c.2541G>A
• LRG_307:g.83560G>A
• LRG_307p1:p.Thr847=
• NC_000004.11:g.55602720G>A
• NM_000222.2:c.2541G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs762912889

NCBI 1000 Genomes Browser:

rs762912889

Molecular consequence:

• NM_000222.3:c.2541G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001093772.2:c.2529G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385284.1:c.2544G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385285.1:c.2538G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385286.1:c.2526G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385288.1:c.2532G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385290.1:c.2541G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385292.1:c.2529G>A - synonymous variant - [Sequence Ontology: SO:0001819]