ClinVar

NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 71435635 (on Assembly GRCh38)
• Chr11: 71146681 (on Assembly GRCh37)

Preferred name:

NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)

HGVS:

• NC_000011.10:g.71435635G>A
• NG_012655.2:g.17797C>T
• NM_001163817.2:c.1168C>T
• NM_001360.3:c.1168C>TMANE SELECT
• NP_001157289.1:p.His390Tyr
• NP_001351.2:p.His390Tyr
• NP_001351.2:p.His390Tyr
• LRG_340t1:c.1168C>T
• LRG_340:g.17797C>T
• LRG_340p1:p.His390Tyr
• NC_000011.9:g.71146681G>A
• NM_001360.2:c.1168C>T

This HGVS expression did not pass validation

Protein change:

H390Y

Links:

dbSNP: rs544442568

NCBI 1000 Genomes Browser:

rs544442568

Molecular consequence:

• NM_001163817.2:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360.3:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]