ClinVar

NM_001055.4(SULT1A1):c.800C>T (p.Thr267Ile)

Gene:

SULT1A1:sulfotransferase family 1A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 28605909 (on Assembly GRCh38)
• Chr16: 28617230 (on Assembly GRCh37)

Preferred name:

NM_001055.4(SULT1A1):c.800C>T (p.Thr267Ile)

HGVS:

• NC_000016.10:g.28605909G>A
• NG_028128.1:g.22637C>T
• NM_001055.4:c.800C>TMANE SELECT
• NM_001394421.1:c.800C>T
• NM_001394422.1:c.800C>T
• NM_001394423.1:c.800C>T
• NM_001394424.1:c.800C>T
• NM_001394425.1:c.800C>T
• NM_177529.3:c.800C>T
• NM_177530.4:c.800C>T
• NM_177534.4:c.800C>T
• NM_177536.5:c.497C>T
• NP_001046.2:p.Thr267Ile
• NP_001381350.1:p.Thr267Ile
• NP_001381351.1:p.Thr267Ile
• NP_001381352.1:p.Thr267Ile
• NP_001381353.1:p.Thr267Ile
• NP_001381354.1:p.Thr267Ile
• NP_803565.1:p.Thr267Ile
• NP_803566.1:p.Thr267Ile
• NP_803878.1:p.Thr267Ile
• NP_803880.2:p.Thr166Ile
• NC_000016.9:g.28617230G>A
• NM_001055.3:c.800C>T

This HGVS expression did not pass validation

Protein change:

T166I

Molecular consequence:

• NM_001055.4:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394421.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394422.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394423.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394424.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394425.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_177529.3:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_177530.4:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_177534.4:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_177536.5:c.497C>T - missense variant - [Sequence Ontology: SO:0001583]