ClinVar

NM_001360.3(DHCR7):c.882C>T (p.Thr294=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 71437893 (on Assembly GRCh38)
• Chr11: 71148939 (on Assembly GRCh37)

Preferred name:

NM_001360.3(DHCR7):c.882C>T (p.Thr294=)

HGVS:

• NC_000011.10:g.71437893G>A
• NG_012655.2:g.15539C>T
• NM_001163817.2:c.882C>T
• NM_001360.3:c.882C>TMANE SELECT
• NP_001157289.1:p.Thr294=
• NP_001351.2:p.Thr294=
• LRG_340:g.15539C>T
• NC_000011.9:g.71148939G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs748858240

NCBI 1000 Genomes Browser:

rs748858240

Molecular consequence:

• NM_001163817.2:c.882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001360.3:c.882C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1