ClinVar

NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)

Gene:

DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 71437913 (on Assembly GRCh38)
• Chr11: 71148959 (on Assembly GRCh37)

Preferred name:

NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)

HGVS:

• NC_000011.10:g.71437913C>T
• NG_012655.2:g.15519G>A
• NM_001163817.2:c.862G>A
• NM_001360.3:c.862G>AMANE SELECT
• NP_001157289.1:p.Glu288Lys
• NP_001351.2:p.Glu288Lys
• NP_001351.2:p.Glu288Lys
• LRG_340t1:c.862G>A
• LRG_340:g.15519G>A
• LRG_340p1:p.Glu288Lys
• NC_000011.9:g.71148959C>T
• NM_001360.2:c.862G>A

This HGVS expression did not pass validation

Protein change:

E288K

Links:

dbSNP: rs565893436

NCBI 1000 Genomes Browser:

rs565893436

Molecular consequence:

• NM_001163817.2:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360.3:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1