ClinVar

NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu)

Genes:

RASA1:RAS p21 protein activator 1 [Gene - OMIM - HGNC]
CCNH:cyclin H [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.3

Genomic location:

• Chr5: 87379850 (on Assembly GRCh38)
• Chr5: 86675667 (on Assembly GRCh37)

Preferred name:

NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu)

HGVS:

• NC_000005.10:g.87379850C>T
• NG_011650.1:g.116517C>T
• NM_001364075.2:c.933+15194G>A
• NM_002890.3:c.2603C>TMANE SELECT
• NM_022650.3:c.2072C>T
• NP_002881.1:p.Pro868Leu
• NP_072179.1:p.Pro691Leu
• NC_000005.9:g.86675667C>T
• NM_002890.2:c.2603C>T

This HGVS expression did not pass validation

Protein change:

P691L

Links:

dbSNP: rs138785106

NCBI 1000 Genomes Browser:

rs138785106

Molecular consequence:

• NM_001364075.2:c.933+15194G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002890.3:c.2603C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022650.3:c.2072C>T - missense variant - [Sequence Ontology: SO:0001583]