ClinVar

NM_002890.3(RASA1):c.617T>C (p.Ile206Thr)

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: 87331425 (on Assembly GRCh38)
• Chr5: 86627242 (on Assembly GRCh37)

Preferred name:

NM_002890.3(RASA1):c.617T>C (p.Ile206Thr)

HGVS:

• NC_000005.10:g.87331425T>C
• NG_011650.1:g.68092T>C
• NM_001364075.2:c.934-18630A>G
• NM_002890.3:c.617T>CMANE SELECT
• NM_022650.3:c.86T>C
• NP_002881.1:p.Ile206Thr
• NP_072179.1:p.Ile29Thr
• NC_000005.9:g.86627242T>C
• NM_002890.2:c.617T>C

This HGVS expression did not pass validation

Protein change:

I206T

Links:

dbSNP: rs182498192

NCBI 1000 Genomes Browser:

rs182498192

Molecular consequence:

• NM_001364075.2:c.934-18630A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_002890.3:c.617T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_022650.3:c.86T>C - missense variant - [Sequence Ontology: SO:0001583]