ClinVar

NM_001159773.2(CANT1):c.925G>A (p.Glu309Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 78993831 (on Assembly GRCh38)
• Chr17: 76989913 (on Assembly GRCh37)

Preferred name:

NM_001159773.2(CANT1):c.925G>A (p.Glu309Lys)

HGVS:

• NC_000017.11:g.78993831C>T
• NG_016645.1:g.20987G>A
• NM_001159772.2:c.925G>A
• NM_001159773.2:c.925G>AMANE SELECT
• NM_138793.4:c.925G>A
• NP_001153244.1:p.Glu309Lys
• NP_001153245.1:p.Glu309Lys
• NP_620148.1:p.Glu309Lys
• NC_000017.10:g.76989913C>T

This HGVS expression did not pass validation

Protein change:

E309K

Links:

dbSNP: rs771602571

NCBI 1000 Genomes Browser:

rs771602571

Molecular consequence:

• NM_001159772.2:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001159773.2:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_138793.4:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1