ClinVar

NM_002742.3(PRKD1):c.1993G>A (p.Asp665Asn)

Gene:

PRKD1:protein kinase D1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

• Chr14: 29599730 (on Assembly GRCh38)
• Chr14: 30068936 (on Assembly GRCh37)

Preferred name:

NM_002742.3(PRKD1):c.1993G>A (p.Asp665Asn)

HGVS:

• NC_000014.9:g.29599730C>T
• NG_052879.1:g.332964G>A
• NM_001330069.2:c.2017G>A
• NM_001348390.1:c.1729G>A
• NM_002742.3:c.1993G>AMANE SELECT
• NP_001316998.1:p.Asp673Asn
• NP_001335319.1:p.Asp577Asn
• NP_002733.2:p.Asp665Asn
• NC_000014.8:g.30068936C>T
• NM_002742.2:c.1993G>A

This HGVS expression did not pass validation

Protein change:

D577N

Links:

dbSNP: rs193921103

NCBI 1000 Genomes Browser:

rs193921103

Molecular consequence:

• NM_001330069.2:c.2017G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348390.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002742.3:c.1993G>A - missense variant - [Sequence Ontology: SO:0001583]