ClinVar

NM_000222.3(KIT):c.1895C>T (p.Thr632Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54728026 (on Assembly GRCh38)
• Chr4: 55594192 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.1895C>T (p.Thr632Ile)

HGVS:

• NC_000004.12:g.54728026C>T
• NG_007456.1:g.75032C>T
• NM_000222.3:c.1895C>TMANE SELECT
• NM_001093772.2:c.1883C>T
• NM_001385284.1:c.1898C>T
• NM_001385285.1:c.1895C>T
• NM_001385286.1:c.1883C>T
• NM_001385288.1:c.1886C>T
• NM_001385290.1:c.1898C>T
• NM_001385292.1:c.1886C>T
• NP_000213.1:p.Thr632Ile
• NP_000213.1:p.Thr632Ile
• NP_001087241.1:p.Thr628Ile
• NP_001372213.1:p.Thr633Ile
• NP_001372214.1:p.Thr632Ile
• NP_001372215.1:p.Thr628Ile
• NP_001372217.1:p.Thr629Ile
• NP_001372219.1:p.Thr633Ile
• NP_001372221.1:p.Thr629Ile
• LRG_307t1:c.1895C>T
• LRG_307:g.75032C>T
• LRG_307p1:p.Thr632Ile
• NC_000004.11:g.55594192C>T
• NM_000222.2:c.1895C>T

This HGVS expression did not pass validation

Protein change:

T628I

Links:

dbSNP: rs1553891944

NCBI 1000 Genomes Browser:

rs1553891944

Molecular consequence:

• NM_000222.3:c.1895C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001093772.2:c.1883C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385284.1:c.1898C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385285.1:c.1895C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385286.1:c.1883C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385288.1:c.1886C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385290.1:c.1898C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385292.1:c.1886C>T - missense variant - [Sequence Ontology: SO:0001583]