ClinVar

NM_001164749.2(NPAS3):c.1916C>T (p.Ser639Phe)

Gene:

NPAS3:neuronal PAS domain protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q13.1

Genomic location:

• Chr14: 33800223 (on Assembly GRCh38)
• Chr14: 34269429 (on Assembly GRCh37)

Preferred name:

NM_001164749.2(NPAS3):c.1916C>T (p.Ser639Phe)

HGVS:

• NC_000014.9:g.33800223C>T
• NG_013036.2:g.865971C>T
• NM_001164749.2:c.1916C>TMANE SELECT
• NM_001165893.2:c.1826C>T
• NM_001394988.1:c.1871C>T
• NM_001394989.1:c.1817C>T
• NM_022123.3:c.1820C>T
• NM_173159.3:c.1877C>T
• NP_001158221.1:p.Ser639Phe
• NP_001159365.1:p.Ser609Phe
• NP_001381917.1:p.Ser624Phe
• NP_001381918.1:p.Ser606Phe
• NP_071406.1:p.Ser607Phe
• NP_775182.1:p.Ser626Phe
• NC_000014.8:g.34269429C>T
• NM_001164749.1:c.1916C>T

This HGVS expression did not pass validation

Protein change:

S606F

Molecular consequence:

• NM_001164749.2:c.1916C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001165893.2:c.1826C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394988.1:c.1871C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394989.1:c.1817C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022123.3:c.1820C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173159.3:c.1877C>T - missense variant - [Sequence Ontology: SO:0001583]