ClinVar

NM_198253.3(TERT):c.941C>T (p.Pro314Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 1293945 (on Assembly GRCh38)
• Chr5: 1294060 (on Assembly GRCh37)

Preferred name:

NM_198253.3(TERT):c.941C>T (p.Pro314Leu)

HGVS:

• NC_000005.10:g.1293945G>A
• NG_009265.1:g.6103C>T
• NM_001193376.3:c.941C>T
• NM_198253.3:c.941C>TMANE SELECT
• NP_001180305.1:p.Pro314Leu
• NP_937983.2:p.Pro314Leu
• NP_937983.2:p.Pro314Leu
• LRG_343t1:c.941C>T
• LRG_343:g.6103C>T
• LRG_343p1:p.Pro314Leu
• NC_000005.9:g.1294060G>A
• NM_198253.2:c.941C>T
• NR_149162.3:n.1020C>T
• NR_149163.3:n.1020C>T

This HGVS expression did not pass validation

Protein change:

P314L

Links:

dbSNP: rs1306142415

NCBI 1000 Genomes Browser:

rs1306142415

Molecular consequence:

• NM_001193376.3:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198253.3:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_149162.3:n.1020C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149163.3:n.1020C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]