ClinVar

NM_001319217.2(CYP1A1):c.1374C>T (p.Ile458=)

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: 74720654 (on Assembly GRCh38)
• Chr15: 75012995 (on Assembly GRCh37)

Preferred name:

NM_001319217.2(CYP1A1):c.1374C>T (p.Ile458=)

HGVS:

• NC_000015.10:g.74720654G>A
• NG_008431.2:g.3113G>A
• NG_061374.1:g.9875C>T
• NM_000499.5:c.1374C>T
• NM_001319216.2:c.1287C>T
• NM_001319217.1:c.1374C>T
• NM_001319217.2:c.1374C>TMANE SELECT
• NP_000490.1:p.Ile458=
• NP_001306145.1:p.Ile429=
• NP_001306146.1:p.Ile458=
• LRG_1262t1:c.1374C>T
• LRG_1262:g.9875C>T
• LRG_1262p1:p.Ile458=
• NC_000015.9:g.75012995G>A
• NM_000499.4:c.1374C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs147033233

NCBI 1000 Genomes Browser:

rs147033233

Molecular consequence:

• NM_000499.5:c.1374C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319216.2:c.1287C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319217.2:c.1374C>T - synonymous variant - [Sequence Ontology: SO:0001819]