ClinVar

NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)

Gene:

PNKP:polynucleotide kinase 3'-phosphatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 49862397 (on Assembly GRCh38)
• Chr19: 50365654 (on Assembly GRCh37)

Preferred name:

NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)

HGVS:

• NC_000019.10:g.49862397C>T
• NG_027717.1:g.10169G>A
• NG_050666.1:g.18554C>T
• NM_007254.2:c.1003G>A
• NM_007254.4:c.1003G>AMANE SELECT
• NP_009185.2:p.Gly335Ser
• NC_000019.9:g.50365654C>T
• NM_007254.3:c.1003G>A

This HGVS expression did not pass validation

Protein change:

G335S

Links:

dbSNP: rs768567927

NCBI 1000 Genomes Browser:

rs768567927

Molecular consequence:

• NM_007254.4:c.1003G>A - missense variant - [Sequence Ontology: SO:0001583]