ClinVar

NM_001024845.3(SLC6A9):c.1053C>T (p.His351=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 44001537 (on Assembly GRCh38)
• Chr1: 44467209 (on Assembly GRCh37)

Preferred name:

NM_001024845.3(SLC6A9):c.1053C>T (p.His351=)

HGVS:

• NC_000001.11:g.44001537G>A
• NG_050929.1:g.34956C>T
• NM_001024845.3:c.1053C>TMANE SELECT
• NM_001261380.2:c.1065C>T
• NM_001328626.2:c.720C>T
• NM_001328627.1:c.990C>T
• NM_001328628.1:c.858C>T
• NM_001328629.1:c.1053C>T
• NM_001328630.2:c.720C>T
• NM_006934.4:c.1110C>T
• NM_201649.4:c.1272C>T
• NP_001020016.1:p.His351=
• NP_001248309.1:p.His355=
• NP_001315555.1:p.His240=
• NP_001315556.1:p.His330=
• NP_001315557.1:p.His286=
• NP_001315558.1:p.His351=
• NP_001315559.1:p.His240=
• NP_008865.2:p.His370=
• NP_964012.2:p.His424=
• NC_000001.10:g.44467209G>A
• NR_048548.2:n.1140C>T
• NR_048549.1:n.1036C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_048548.2:n.1140C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001024845.3:c.1053C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001261380.2:c.1065C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001328626.2:c.720C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001328627.1:c.990C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001328628.1:c.858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001328629.1:c.1053C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001328630.2:c.720C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006934.4:c.1110C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201649.4:c.1272C>T - synonymous variant - [Sequence Ontology: SO:0001819]