ClinVar

NM_001776.6(ENTPD1):c.189C>T (p.Tyr63=)

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: 95839735 (on Assembly GRCh38)
• Chr10: 97599492 (on Assembly GRCh37)

Preferred name:

NM_001776.6(ENTPD1):c.189C>T (p.Tyr63=)

HGVS:

• NC_000010.11:g.95839735C>T
• NG_042803.1:g.132957C>T
• NG_042803.2:g.150551C>T
• NM_001098175.2:c.210C>T
• NM_001164178.1:c.225C>T
• NM_001164179.2:c.189C>T
• NM_001164181.1:c.-136C>T
• NM_001164182.2:c.-75C>T
• NM_001164183.2:c.-1-4741C>T
• NM_001312654.1:c.-136C>T
• NM_001320916.1:c.225C>T
• NM_001776.6:c.189C>TMANE SELECT
• NP_001091645.1:p.Tyr70=
• NP_001157650.1:p.Tyr75=
• NP_001157651.1:p.Tyr63=
• NP_001307845.1:p.Tyr75=
• NP_001767.3:p.Tyr63=
• NC_000010.10:g.97599492C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001164181.1:c.-136C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001164182.2:c.-75C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001312654.1:c.-136C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001164183.2:c.-1-4741C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001098175.2:c.210C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164178.1:c.225C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164179.2:c.189C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320916.1:c.225C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001776.6:c.189C>T - synonymous variant - [Sequence Ontology: SO:0001819]