ClinVar

NM_058179.4(PSAT1):c.445G>A (p.Val149Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.2

Genomic location:

• Chr9: 78306361 (on Assembly GRCh38)
• Chr9: 80921277 (on Assembly GRCh37)

Preferred name:

NM_058179.4(PSAT1):c.445G>A (p.Val149Met)

HGVS:

• NC_000009.12:g.78306361G>A
• NG_012165.1:g.14219G>A
• NM_021154.5:c.445G>A
• NM_058179.4:c.445G>AMANE SELECT
• NP_066977.1:p.Val149Met
• NP_478059.1:p.Val149Met
• NC_000009.11:g.80921277G>A
• NC_000009.11:g.80921277G>A
• NM_058179.3:c.445G>A

This HGVS expression did not pass validation

Protein change:

V149M

Links:

dbSNP: rs142975997

NCBI 1000 Genomes Browser:

rs142975997

Molecular consequence:

• NM_021154.5:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_058179.4:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• function_uncertain_variant [Sequence Ontology: SO:0002220] - Comment(s)
  • Impaired relative to wildtype, but less than all known disease alleles. PMID:32077105 Table S7.
• mutation affecting coding sequence [Sequence Ontology: SO:1000054] - Comment(s)
  • Impaired relative to wildtype, but less than all known disease alleles. PMID:32077105 Table S7.