ClinVar

NM_001360.3(DHCR7):c.84G>T (p.Gln28His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 71444869 (on Assembly GRCh38)
• Chr11: 71155915 (on Assembly GRCh37)

Preferred name:

NM_001360.3(DHCR7):c.84G>T (p.Gln28His)

HGVS:

• NC_000011.10:g.71444869C>A
• NG_012655.2:g.8563G>T
• NM_001163817.2:c.84G>T
• NM_001360.3:c.84G>TMANE SELECT
• NP_001157289.1:p.Gln28His
• NP_001351.2:p.Gln28His
• LRG_340:g.8563G>T
• NC_000011.9:g.71155915C>A

This HGVS expression did not pass validation

Protein change:

Q28H

Links:

dbSNP: rs372855459

NCBI 1000 Genomes Browser:

rs372855459

Molecular consequence:

• NM_001163817.2:c.84G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360.3:c.84G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1