ClinVar

NM_198253.3(TERT):c.1659C>T (p.Val553=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 1282539 (on Assembly GRCh38)
• Chr5: 1282654 (on Assembly GRCh37)

Preferred name:

NM_198253.3(TERT):c.1659C>T (p.Val553=)

Other names:

p.Val553Val

HGVS:

• NC_000005.10:g.1282539G>A
• NG_009265.1:g.17509C>T
• NM_001193376.3:c.1659C>T
• NM_198253.3:c.1659C>TMANE SELECT
• NP_001180305.1:p.Val553=
• NP_937983.2:p.Val553=
• NP_937983.2:p.Val553=
• LRG_343t1:c.1659C>T
• LRG_343:g.17509C>T
• LRG_343p1:p.Val553=
• NC_000005.9:g.1282654G>A
• NM_198253.2:c.1659C>T
• NR_149162.3:n.1738C>T
• NR_149163.3:n.1738C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs35809415

NCBI 1000 Genomes Browser:

rs35809415

Molecular consequence:

• NR_149162.3:n.1738C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149163.3:n.1738C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193376.3:c.1659C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198253.3:c.1659C>T - synonymous variant - [Sequence Ontology: SO:0001819]