ClinVar

NM_198253.3(TERT):c.838G>A (p.Glu280Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 1294048 (on Assembly GRCh38)
• Chr5: 1294163 (on Assembly GRCh37)

Preferred name:

NM_198253.3(TERT):c.838G>A (p.Glu280Lys)

HGVS:

• NC_000005.10:g.1294048C>T
• NG_009265.1:g.6000G>A
• NM_001193376.3:c.838G>A
• NM_198253.3:c.838G>AMANE SELECT
• NP_001180305.1:p.Glu280Lys
• NP_937983.2:p.Glu280Lys
• NP_937983.2:p.Glu280Lys
• LRG_343t1:c.838G>A
• LRG_343:g.6000G>A
• LRG_343p1:p.Glu280Lys
• NC_000005.9:g.1294163C>T
• NM_198253.2:c.838G>A
• NR_149162.3:n.917G>A
• NR_149163.3:n.917G>A

This HGVS expression did not pass validation

Protein change:

E280K

Links:

dbSNP: rs199701877

NCBI 1000 Genomes Browser:

rs199701877

Molecular consequence:

• NM_001193376.3:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198253.3:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_149162.3:n.917G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149163.3:n.917G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]