ClinVar

NM_000222.3(KIT):c.1800C>T (p.Phe600=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54727848 (on Assembly GRCh38)
• Chr4: 55594014 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.1800C>T (p.Phe600=)

HGVS:

• NC_000004.12:g.54727848C>T
• NG_007456.1:g.74854C>T
• NM_000222.3:c.1800C>TMANE SELECT
• NM_001093772.2:c.1788C>T
• NM_001385284.1:c.1803C>T
• NM_001385285.1:c.1800C>T
• NM_001385286.1:c.1788C>T
• NM_001385288.1:c.1791C>T
• NM_001385290.1:c.1803C>T
• NM_001385292.1:c.1791C>T
• NP_000213.1:p.Phe600=
• NP_000213.1:p.Phe600=
• NP_001087241.1:p.Phe596=
• NP_001372213.1:p.Phe601=
• NP_001372214.1:p.Phe600=
• NP_001372215.1:p.Phe596=
• NP_001372217.1:p.Phe597=
• NP_001372219.1:p.Phe601=
• NP_001372221.1:p.Phe597=
• LRG_307t1:c.1800C>T
• LRG_307:g.74854C>T
• LRG_307p1:p.Phe600=
• NC_000004.11:g.55594014C>T
• NM_000222.2:c.1800C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138380197

NCBI 1000 Genomes Browser:

rs138380197

Molecular consequence:

• NM_000222.3:c.1800C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001093772.2:c.1788C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385284.1:c.1803C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385285.1:c.1800C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385286.1:c.1788C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385288.1:c.1791C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385290.1:c.1803C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385292.1:c.1791C>T - synonymous variant - [Sequence Ontology: SO:0001819]