ClinVar

NM_198253.3(TERT):c.863C>T (p.Ala288Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 1294023 (on Assembly GRCh38)
• Chr5: 1294138 (on Assembly GRCh37)

Preferred name:

NM_198253.3(TERT):c.863C>T (p.Ala288Val)

Other names:

p.Ala288Val

HGVS:

• NC_000005.10:g.1294023G>A
• NG_009265.1:g.6025C>T
• NM_001193376.3:c.863C>T
• NM_198253.3:c.863C>TMANE SELECT
• NP_001180305.1:p.Ala288Val
• NP_937983.2:p.Ala288Val
• NP_937983.2:p.Ala288Val
• LRG_343t1:c.863C>T
• LRG_343:g.6025C>T
• LRG_343p1:p.Ala288Val
• NC_000005.9:g.1294138G>A
• NM_198253.2:c.863C>T
• NR_149162.3:n.942C>T
• NR_149163.3:n.942C>T

This HGVS expression did not pass validation

Protein change:

A288V

Links:

dbSNP: rs774657340

NCBI 1000 Genomes Browser:

rs774657340

Molecular consequence:

• NM_001193376.3:c.863C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198253.3:c.863C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_149162.3:n.942C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149163.3:n.942C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]