ClinVar

NM_001024845.3(SLC6A9):c.235C>T (p.Pro79Ser)

Gene:

SLC6A9:solute carrier family 6 member 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 44010049 (on Assembly GRCh38)
• Chr1: 44475721 (on Assembly GRCh37)

Preferred name:

NM_001024845.3(SLC6A9):c.235C>T (p.Pro79Ser)

HGVS:

• NC_000001.11:g.44010049G>A
• NG_050929.1:g.26444C>T
• NM_001024845.3:c.235C>TMANE SELECT
• NM_001261380.2:c.247C>T
• NM_001328626.2:c.-14-1426C>T
• NM_001328627.1:c.172C>T
• NM_001328628.1:c.125-1426C>T
• NM_001328629.1:c.235C>T
• NM_001328630.2:c.-14-1426C>T
• NM_006934.4:c.292C>T
• NM_201649.4:c.454C>T
• NP_001020016.1:p.Pro79Ser
• NP_001248309.1:p.Pro83Ser
• NP_001315556.1:p.Pro58Ser
• NP_001315558.1:p.Pro79Ser
• NP_008865.2:p.Pro98Ser
• NP_964012.2:p.Pro152Ser
• NC_000001.10:g.44475721G>A
• NR_048548.2:n.322C>T

This HGVS expression did not pass validation

Protein change:

P152S

Links:

dbSNP: rs2154305890

NCBI 1000 Genomes Browser:

rs2154305890

Molecular consequence:

• NM_001328626.2:c.-14-1426C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001328628.1:c.125-1426C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001328630.2:c.-14-1426C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024845.3:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001261380.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001328627.1:c.172C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001328629.1:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006934.4:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_201649.4:c.454C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_048548.2:n.322C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]