ClinVar

NM_006912.6(RIT1):c.270G>T (p.Met90Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155904470 (on Assembly GRCh38)
• Chr1: 155874261 (on Assembly GRCh37)

Preferred name:

NM_006912.6(RIT1):c.270G>T (p.Met90Ile)

HGVS:

• NC_000001.11:g.155904470C>A
• NG_033885.1:g.11933G>T
• NM_001256820.2:c.162G>T
• NM_001256821.2:c.321G>T
• NM_006912.6:c.270G>TMANE SELECT
• NP_001243749.1:p.Met54Ile
• NP_001243750.1:p.Met107Ile
• NP_008843.1:p.Met90Ile
• LRG_1372t1:c.270G>T
• LRG_1372:g.11933G>T
• LRG_1372p1:p.Met90Ile
• NC_000001.10:g.155874261C>A
• NM_006912.4:c.270G>T
• NM_006912.5:c.270G>T
• Q92963:p.Met90Ile

This HGVS expression did not pass validation

Protein change:

M107I

Links:

UniProtKB: Q92963#VAR_070156; dbSNP: rs483352822

NCBI 1000 Genomes Browser:

rs483352822

Molecular consequence:

• NM_001256820.2:c.162G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256821.2:c.321G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006912.6:c.270G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1