ClinVar

NM_198253.3(TERT):c.2303A>T (p.Asp768Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

• Chr5: 1272264 (on Assembly GRCh38)
• Chr5: 1272379 (on Assembly GRCh37)

Preferred name:

NM_198253.3(TERT):c.2303A>T (p.Asp768Val)

HGVS:

• NC_000005.10:g.1272264T>A
• NG_009265.1:g.27784A>T
• NM_001193376.3:c.2303A>T
• NM_198253.3:c.2303A>TMANE SELECT
• NP_001180305.1:p.Asp768Val
• NP_937983.2:p.Asp768Val
• LRG_343:g.27784A>T
• NC_000005.9:g.1272379T>A

This HGVS expression did not pass validation

Protein change:

D768V

Links:

dbSNP: rs1579564948

NCBI 1000 Genomes Browser:

rs1579564948

Molecular consequence:

• NM_001193376.3:c.2303A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198253.3:c.2303A>T - missense variant - [Sequence Ontology: SO:0001583]