ClinVar

NM_000222.3(KIT):c.1434A>T (p.Ile478=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54725944 (on Assembly GRCh38)
• Chr4: 55592110 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.1434A>T (p.Ile478=)

HGVS:

• NC_000004.12:g.54725944A>T
• NG_007456.1:g.72950A>T
• NM_000222.3:c.1434A>TMANE SELECT
• NM_001093772.2:c.1434A>T
• NM_001385284.1:c.1437A>T
• NM_001385285.1:c.1434A>T
• NM_001385286.1:c.1434A>T
• NM_001385288.1:c.1437A>T
• NM_001385290.1:c.1437A>T
• NM_001385292.1:c.1437A>T
• NP_000213.1:p.Ile478=
• NP_001087241.1:p.Ile478=
• NP_001372213.1:p.Ile479=
• NP_001372214.1:p.Ile478=
• NP_001372215.1:p.Ile478=
• NP_001372217.1:p.Ile479=
• NP_001372219.1:p.Ile479=
• NP_001372221.1:p.Ile479=
• LRG_307:g.72950A>T
• NC_000004.11:g.55592110A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2109768926

NCBI 1000 Genomes Browser:

rs2109768926

Molecular consequence:

• NM_000222.3:c.1434A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001093772.2:c.1434A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385284.1:c.1437A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385285.1:c.1434A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385286.1:c.1434A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385288.1:c.1437A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385290.1:c.1437A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385292.1:c.1437A>T - synonymous variant - [Sequence Ontology: SO:0001819]