ClinVar

NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)

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: 532698 (on Assembly GRCh38)
• Chr11: 532698 (on Assembly GRCh37)

Preferred name:

NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)

Other names:

p.K170*:AAG>TAG; NM_005343.3(HRAS):c.508A>T

HGVS:

• NC_000011.10:g.532698T>A
• NG_007666.1:g.7853A>T
• NM_001130442.3:c.508A>T
• NM_001318054.2:c.271A>T
• NM_005343.4:c.508A>TMANE SELECT
• NM_176795.5:c.*77A>T
• NP_001123914.1:p.Lys170Ter
• NP_001304983.1:p.Lys91Ter
• NP_005334.1:p.Lys170Ter
• LRG_506t1:c.508A>T
• LRG_506:g.7853A>T
• LRG_506p1:p.Lys170Ter
• NC_000011.9:g.532698T>A
• NM_005343.2:c.508A>T
• NM_176795.3:c.*77A>T

This HGVS expression did not pass validation

Protein change:

K170*

Links:

dbSNP: rs372936166

NCBI 1000 Genomes Browser:

rs372936166

Molecular consequence:

• NM_176795.5:c.*77A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001130442.3:c.508A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001318054.2:c.271A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_005343.4:c.508A>T - nonsense - [Sequence Ontology: SO:0001587]