ClinVar

NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 1253798 (on Assembly GRCh38)
• Chr5: 1253913 (on Assembly GRCh37)

Preferred name:

NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)

HGVS:

• NC_000005.10:g.1253798G>A
• NG_009265.1:g.46250C>T
• NM_001193376.3:c.3140C>T
• NM_198253.3:c.3329C>TMANE SELECT
• NP_001180305.1:p.Thr1047Met
• NP_937983.2:p.Thr1110Met
• NP_937983.2:p.Thr1110Met
• LRG_343t1:c.3329C>T
• LRG_343:g.46250C>T
• LRG_343p1:p.Thr1110Met
• NC_000005.9:g.1253913G>A
• NM_198253.2:c.3329C>T
• NR_149162.3:n.3037C>T
• NR_149163.3:n.3001C>T
• O14746:p.Thr1110Met

This HGVS expression did not pass validation

Protein change:

T1047M

Links:

UniProtKB: O14746#VAR_062543; dbSNP: rs199422306

NCBI 1000 Genomes Browser:

rs199422306

Molecular consequence:

• NM_001193376.3:c.3140C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198253.3:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_149162.3:n.3037C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149163.3:n.3001C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]