ClinVar

NM_145201.6(NAPRT):c.351C>T (p.Pro117=)

Gene:

NAPRT:nicotinate phosphoribosyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 143577819 (on Assembly GRCh38)
• Chr8: 144659989 (on Assembly GRCh37)

Preferred name:

NM_145201.6(NAPRT):c.351C>T (p.Pro117=)

HGVS:

• NC_000008.11:g.143577819G>A
• NM_001286829.2:c.351C>T
• NM_001363145.1:c.351C>T
• NM_001363146.1:c.-218C>T
• NM_145201.6:c.351C>TMANE SELECT
• NP_001273758.1:p.Pro117=
• NP_001350074.1:p.Pro117=
• NP_660202.3:p.Pro117=
• NC_000008.10:g.144659989G>A
• NM_145201.5:c.351C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200810930

NCBI 1000 Genomes Browser:

rs200810930

Molecular consequence:

• NM_001363146.1:c.-218C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001286829.2:c.351C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363145.1:c.351C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_145201.6:c.351C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1