ClinVar

NM_025099.6(CTC1):c.597G>A (p.Thr199=)

Gene:

CTC1:CST telomere replication complex component 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 8238081 (on Assembly GRCh38)
• Chr17: 8141399 (on Assembly GRCh37)

Preferred name:

NM_025099.6(CTC1):c.597G>A (p.Thr199=)

HGVS:

• NC_000017.11:g.8238081C>T
• NG_032148.2:g.15015G>A
• NM_025099.6:c.597G>AMANE SELECT
• NP_079375.3:p.Thr199=
• LRG_1124t1:c.597G>A
• LRG_1124:g.15015G>A
• LRG_1124p1:p.Thr199=
• NC_000017.10:g.8141399C>T
• NM_025099.5:c.597G>A
• NR_046431.2:n.617G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs373023392

NCBI 1000 Genomes Browser:

rs373023392

Molecular consequence:

• NR_046431.2:n.617G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_025099.6:c.597G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1