ClinVar

NM_198253.3(TERT):c.2177C>T (p.Thr726Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 1278750 (on Assembly GRCh38)
• Chr5: 1278865 (on Assembly GRCh37)

Preferred name:

NM_198253.3(TERT):c.2177C>T (p.Thr726Met)

HGVS:

• NC_000005.10:g.1278750G>A
• NG_009265.1:g.21298C>T
• NM_001193376.3:c.2177C>T
• NM_198253.3:c.2177C>TMANE SELECT
• NP_001180305.1:p.Thr726Met
• NP_937983.2:p.Thr726Met
• NP_937983.2:p.Thr726Met
• LRG_343t1:c.2177C>T
• LRG_343:g.21298C>T
• LRG_343p1:p.Thr726Met
• NC_000005.9:g.1278865G>A
• NM_198253.2:c.2177C>T
• NR_149162.3:n.2256C>T
• NR_149163.3:n.2220C>T
• O14746:p.Thr726Met

This HGVS expression did not pass validation

Protein change:

T726M

Links:

UniProtKB: O14746#VAR_062539; dbSNP: rs149566858

NCBI 1000 Genomes Browser:

rs149566858

Molecular consequence:

• NM_001193376.3:c.2177C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198253.3:c.2177C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_149162.3:n.2256C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149163.3:n.2220C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]