ClinVar

NM_001664.4(RHOA):c.196T>C (p.Tyr66His)

Gene:

RHOA:ras homolog family member A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 49368509 (on Assembly GRCh38)
• Chr3: 49405942 (on Assembly GRCh37)

Preferred name:

NM_001664.4(RHOA):c.196T>C (p.Tyr66His)

HGVS:

• NC_000003.12:g.49368509A>G
• NG_051308.1:g.48589T>C
• NM_001313941.2:c.196T>C
• NM_001313943.2:c.196T>C
• NM_001313944.2:c.136T>C
• NM_001313945.2:c.-48T>C
• NM_001313946.2:c.156+6925T>C
• NM_001313947.2:c.157-5883T>C
• NM_001664.4:c.196T>CMANE SELECT
• NP_001300870.1:p.Tyr66His
• NP_001300872.1:p.Tyr66His
• NP_001300873.1:p.Tyr46His
• NP_001655.1:p.Tyr66His
• LRG_1085t1:c.196T>C
• LRG_1085:g.48589T>C
• LRG_1085p1:p.Tyr66His
• NC_000003.11:g.49405942A>G
• NM_001664.2:c.196T>C

This HGVS expression did not pass validation

Protein change:

Y46H

Links:

dbSNP: rs1553631976

NCBI 1000 Genomes Browser:

rs1553631976

Molecular consequence:

• NM_001313945.2:c.-48T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001313946.2:c.156+6925T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001313947.2:c.157-5883T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001313941.2:c.196T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313943.2:c.196T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313944.2:c.136T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001664.4:c.196T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1