ClinVar

NM_001776.6(ENTPD1):c.509C>T (p.Thr170Ile)

Genes:

ENTPD1-AS1:ENTPD1 antisense RNA 1 [Gene - HGNC]
ENTPD1:ectonucleoside triphosphate diphosphohydrolase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.1

Genomic location:

• Chr10: 95844571 (on Assembly GRCh38)
• Chr10: 97604328 (on Assembly GRCh37)

Preferred name:

NM_001776.6(ENTPD1):c.509C>T (p.Thr170Ile)

HGVS:

• NC_000010.11:g.95844571C>T
• NG_042803.1:g.137793C>T
• NG_042803.2:g.155387C>T
• NM_001098175.2:c.530C>T
• NM_001164178.1:c.545C>T
• NM_001164179.2:c.509C>T
• NM_001164181.1:c.185C>T
• NM_001164182.2:c.95C>T
• NM_001164183.2:c.95C>T
• NM_001312654.1:c.185C>T
• NM_001320916.1:c.545C>T
• NM_001776.6:c.509C>TMANE SELECT
• NP_001091645.1:p.Thr177Ile
• NP_001157650.1:p.Thr182Ile
• NP_001157651.1:p.Thr170Ile
• NP_001157653.1:p.Thr62Ile
• NP_001157654.1:p.Thr32Ile
• NP_001157655.1:p.Thr32Ile
• NP_001299583.1:p.Thr62Ile
• NP_001307845.1:p.Thr182Ile
• NP_001767.3:p.Thr170Ile
• NC_000010.10:g.97604328C>T
• NM_001776.5:c.509C>T

This HGVS expression did not pass validation

Protein change:

T170I

Molecular consequence:

• NM_001098175.2:c.530C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164178.1:c.545C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164179.2:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164181.1:c.185C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164182.2:c.95C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164183.2:c.95C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001312654.1:c.185C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320916.1:c.545C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001776.6:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]