ClinVar

NM_005343.4(HRAS):c.249C>T (p.Ala83=)

Genes:

HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 533807 (on Assembly GRCh38)
• Chr11: 533807 (on Assembly GRCh37)

Preferred name:

NM_005343.4(HRAS):c.249C>T (p.Ala83=)

HGVS:

• NC_000011.10:g.533807G>A
• NG_007666.1:g.6744C>T
• NM_001130442.3:c.249C>T
• NM_001318054.2:c.-71C>T
• NM_005343.3:c.249C>T
• NM_005343.4:c.249C>TMANE SELECT
• NM_176795.5:c.249C>T
• NP_001123914.1:p.Ala83=
• NP_005334.1:p.Ala83=
• NP_789765.1:p.Ala83=
• LRG_506t1:c.249C>T
• LRG_506:g.6744C>T
• LRG_506p1:p.Ala83=
• NC_000011.9:g.533807G>A
• NM_005343.2:c.249C>T
• c.249C>T
• p.Ala83Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs111372582

NCBI 1000 Genomes Browser:

rs111372582

Molecular consequence:

• NM_001318054.2:c.-71C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001130442.3:c.249C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005343.4:c.249C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_176795.5:c.249C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1