ClinVar

NM_000106.6(CYP2D6):c.906G>A (p.Leu302=)

Gene:

CYP2D6:cytochrome P450 family 2 subfamily D member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

• Chr22: 42127921 (on Assembly GRCh38)
• Chr22: 42523923 (on Assembly GRCh37)

Preferred name:

NM_000106.6(CYP2D6):c.906G>A (p.Leu302=)

HGVS:

• NC_000022.11:g.42127921C>T
• NG_008376.3:g.7071G>A
• NG_008376.4:g.7890G>A
• NM_000106.6:c.906G>AMANE SELECT
• NM_001025161.3:c.753G>A
• NP_000097.3:p.Leu302=
• NP_001020332.2:p.Leu251=
• LRG_303t1:c.906G>A
• LRG_303:g.7890G>A
• LRG_303p1:p.Leu302=
• NC_000022.10:g.42523923C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs759070183

NCBI 1000 Genomes Browser:

rs759070183

Molecular consequence:

• NM_000106.6:c.906G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001025161.3:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]