ClinVar

NM_001319217.2(CYP1A1):c.1382C>A (p.Thr461Asn)

Gene:

CYP1A1:cytochrome P450 family 1 subfamily A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74720646 (on Assembly GRCh38)
• Chr15: 75012987 (on Assembly GRCh37)

Preferred name:

NM_001319217.2(CYP1A1):c.1382C>A (p.Thr461Asn)

HGVS:

• NC_000015.10:g.74720646G>T
• NG_008431.2:g.3105G>T
• NG_061374.1:g.9883C>A
• NM_000499.5:c.1382C>A
• NM_001319216.2:c.1295C>A
• NM_001319217.2:c.1382C>AMANE SELECT
• NP_000490.1:p.Thr461Asn
• NP_001306145.1:p.Thr432Asn
• NP_001306146.1:p.Thr461Asn
• LRG_1262t1:c.1382C>A
• LRG_1262:g.9883C>A
• LRG_1262p1:p.Thr461Asn
• NC_000015.9:g.75012987G>T
• NM_001319217.1:c.1382C>A

This HGVS expression did not pass validation

Protein change:

T432N

Molecular consequence:

• NM_000499.5:c.1382C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319216.2:c.1295C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319217.2:c.1382C>A - missense variant - [Sequence Ontology: SO:0001583]