ClinVar

NM_006912.6(RIT1):c.268A>G (p.Met90Val)

Gene:

RIT1:Ras like without CAAX 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155904472 (on Assembly GRCh38)
• Chr1: 155874263 (on Assembly GRCh37)

Preferred name:

NM_006912.6(RIT1):c.268A>G (p.Met90Val)

HGVS:

• NC_000001.11:g.155904472T>C
• NG_033885.1:g.11931A>G
• NM_001256820.2:c.160A>G
• NM_001256821.2:c.319A>G
• NM_006912.6:c.268A>GMANE SELECT
• NP_001243749.1:p.Met54Val
• NP_001243750.1:p.Met107Val
• NP_008843.1:p.Met90Val
• LRG_1372t1:c.268A>G
• LRG_1372:g.11931A>G
• LRG_1372p1:p.Met90Val
• NC_000001.10:g.155874263T>C
• NM_001256821.1:c.319A>G
• NM_006912.5:c.268A>G

This HGVS expression did not pass validation

Protein change:

M107V

Links:

Molecular consequence:

• NM_001256820.2:c.160A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256821.2:c.319A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_006912.6:c.268A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2