ClinVar

NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)

Gene:

CDC14A:cell division cycle 14A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p21.2

Genomic location:

• Chr1: 100484440 (on Assembly GRCh38)
• Chr1: 100949996 (on Assembly GRCh37)

Preferred name:

NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)

HGVS:

• NC_000001.11:g.100484440C>T
• NG_051602.2:g.144440C>T
• NM_001319210.2:c.1126C>T
• NM_001319211.2:c.952C>T
• NM_001319212.2:c.247C>T
• NM_003672.4:c.1126C>TMANE SELECT
• NM_033312.3:c.1126C>T
• NM_033313.3:c.1126C>T
• NP_001306139.1:p.Arg376Ter
• NP_001306140.1:p.Arg318Ter
• NP_001306141.1:p.Arg83Ter
• NP_003663.2:p.Arg376Ter
• NP_201569.1:p.Arg376Ter
• NP_201569.1:p.Arg376Ter
• NP_201570.1:p.Arg376Ter
• LRG_1418t1:c.1126C>T
• LRG_1418:g.144440C>T
• LRG_1418p1:p.Arg376Ter
• NC_000001.10:g.100949996C>T
• NM_003672.3:c.1126C>T
• NM_033312.2:c.1126C>T

This HGVS expression did not pass validation

Protein change:

R318*; ARG376TER

Links:

OMIM: 603504.0001; dbSNP: rs876661408

NCBI 1000 Genomes Browser:

rs876661408

Molecular consequence:

• NM_001319210.2:c.1126C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001319211.2:c.952C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001319212.2:c.247C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003672.4:c.1126C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_033312.3:c.1126C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_033313.3:c.1126C>T - nonsense - [Sequence Ontology: SO:0001587]