ClinVar

NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 71435704 (on Assembly GRCh38)
• Chr11: 71146750 (on Assembly GRCh37)

Preferred name:

NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys)

HGVS:

• NC_000011.10:g.71435704G>A
• NG_012655.2:g.17728C>T
• NM_001163817.2:c.1099C>T
• NM_001360.3:c.1099C>TMANE SELECT
• NP_001157289.1:p.Arg367Cys
• NP_001351.2:p.Arg367Cys
• NP_001351.2:p.Arg367Cys
• LRG_340t1:c.1099C>T
• LRG_340:g.17728C>T
• LRG_340p1:p.Arg367Cys
• NC_000011.9:g.71146750G>A
• NM_001360.2:c.1099C>T

This HGVS expression did not pass validation

Protein change:

R367C

Links:

dbSNP: rs531038145

NCBI 1000 Genomes Browser:

rs531038145

Molecular consequence:

• NM_001163817.2:c.1099C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360.3:c.1099C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

4