ClinVar

NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys)

Gene:

TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 1272252 (on Assembly GRCh38)
• Chr5: 1272367 (on Assembly GRCh37)

Preferred name:

NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys)

HGVS:

• NC_000005.10:g.1272252T>C
• NG_009265.1:g.27796A>G
• NM_001193376.2:c.2315A>G
• NM_198253.2:c.2315A>G
• NP_001180305.1:p.Tyr772Cys
• NP_937983.2:p.Tyr772Cys
• LRG_343t1:c.2315A>G
• LRG_343:g.27796A>G
• LRG_343p1:p.Tyr772Cys
• NC_000005.9:g.1272367T>C
• O14746:p.Tyr772Cys

This HGVS expression did not pass validation

Protein change:

Y772C; TYR772CYS

Links:

UniProtKB: O14746#VAR_036867; OMIM: 187270.0004; dbSNP: rs121918663

NCBI 1000 Genomes Browser:

rs121918663

Molecular consequence:

• NM_001193376.2:c.2315A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_198253.2:c.2315A>G - missense variant - [Sequence Ontology: SO:0001583]