ClinVar

NM_130384.3(ATRIP):c.1630C>T (p.His544Tyr)

Genes:

ATRIP:ATR interacting protein [Gene - OMIM - HGNC]
ATRIP-TREX1:ATRIP-TREX1 readthrough [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 48460684 (on Assembly GRCh38)
• Chr3: 48502083 (on Assembly GRCh37)

Preferred name:

NM_130384.3(ATRIP):c.1630C>T (p.His544Tyr)

HGVS:

• NC_000003.12:g.48460684C>T
• NG_041782.1:g.18975C>T
• NM_001271022.2:c.1249C>T
• NM_001271023.2:c.1351C>T
• NM_032166.4:c.1630C>T
• NM_130384.3:c.1630C>TMANE SELECT
• NP_001257951.1:p.His417Tyr
• NP_001257952.1:p.His451Tyr
• NP_115542.2:p.His544Tyr
• NP_569055.1:p.His544Tyr
• NC_000003.11:g.48502083C>T
• NM_130384.1:c.1630C>T
• NR_153405.1:n.1697C>T

This HGVS expression did not pass validation

Protein change:

H417Y

Molecular consequence:

• NM_001271022.2:c.1249C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271023.2:c.1351C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032166.4:c.1630C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130384.3:c.1630C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_153405.1:n.1697C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]