ClinVar

NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 8232126 (on Assembly GRCh38)
• Chr17: 8135444 (on Assembly GRCh37)

Preferred name:

NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala)

HGVS:

• NC_000017.11:g.8232126C>G
• NG_032148.2:g.20970G>C
• NM_025099.6:c.2162G>CMANE SELECT
• NP_079375.3:p.Gly721Ala
• LRG_1124t1:c.2162G>C
• LRG_1124:g.20970G>C
• LRG_1124p1:p.Gly721Ala
• NC_000017.10:g.8135444C>G
• NM_025099.5:c.2162G>C
• NR_046431.2:n.2077G>C

This HGVS expression did not pass validation

Protein change:

G721A

Links:

dbSNP: rs62620189

NCBI 1000 Genomes Browser:

rs62620189

Molecular consequence:

• NM_025099.6:c.2162G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_046431.2:n.2077G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]