ClinVar

NM_001360.3(DHCR7):c.1350C>G (p.Arg450=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 71435453 (on Assembly GRCh38)
• Chr11: 71146499 (on Assembly GRCh37)

Preferred name:

NM_001360.3(DHCR7):c.1350C>G (p.Arg450=)

HGVS:

• NC_000011.10:g.71435453G>C
• NG_012655.2:g.17979C>G
• NM_001163817.2:c.1350C>G
• NM_001360.3:c.1350C>GMANE SELECT
• NP_001157289.1:p.Arg450=
• NP_001351.2:p.Arg450=
• NP_001351.2:p.Arg450=
• LRG_340t1:c.1350C>G
• LRG_340:g.17979C>G
• LRG_340p1:p.Arg450=
• NC_000011.9:g.71146499G>C
• NM_001360.2:c.1350C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001163817.2:c.1350C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001360.3:c.1350C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1