ClinVar

NM_001159773.2(CANT1):c.1134G>A (p.Thr378=)

Gene:

CANT1:calcium activated nucleotidase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 78993622 (on Assembly GRCh38)
• Chr17: 76989704 (on Assembly GRCh37)

Preferred name:

NM_001159773.2(CANT1):c.1134G>A (p.Thr378=)

HGVS:

• NC_000017.11:g.78993622C>T
• NG_016645.1:g.21196G>A
• NM_001159772.2:c.1134G>A
• NM_001159773.2:c.1134G>AMANE SELECT
• NM_138793.4:c.1134G>A
• NP_001153244.1:p.Thr378=
• NP_001153245.1:p.Thr378=
• NP_620148.1:p.Thr378=
• NC_000017.10:g.76989704C>T
• NM_138793.3:c.1134G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs35324359

NCBI 1000 Genomes Browser:

rs35324359

Molecular consequence:

• NM_001159772.2:c.1134G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001159773.2:c.1134G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_138793.4:c.1134G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1