ClinVar

NM_058179.4(PSAT1):c.382C>T (p.Leu128Phe)

Gene:

PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.2

Genomic location:

• Chr9: 78304925 (on Assembly GRCh38)
• Chr9: 80919841 (on Assembly GRCh37)

Preferred name:

NM_058179.4(PSAT1):c.382C>T (p.Leu128Phe)

HGVS:

• NC_000009.12:g.78304925C>T
• NG_012165.1:g.12783C>T
• NM_021154.5:c.382C>T
• NM_058179.4:c.382C>TMANE SELECT
• NP_066977.1:p.Leu128Phe
• NP_478059.1:p.Leu128Phe
• NC_000009.11:g.80919841C>T

This HGVS expression did not pass validation

Protein change:

L128F

Links:

dbSNP: rs763223623

NCBI 1000 Genomes Browser:

rs763223623

Molecular consequence:

• NM_021154.5:c.382C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_058179.4:c.382C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
  • Not impaired relative to wildtype. PMID:32077105 Table S7.
• mutation affecting coding sequence [Sequence Ontology: SO:1000054] - Comment(s)
  • Not impaired relative to wildtype. PMID:32077105 Table S7.