ClinVar

NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 71444088 (on Assembly GRCh38)
• Chr11: 71155134 (on Assembly GRCh37)

Preferred name:

NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)

HGVS:

• NC_000011.10:g.71444088C>T
• NG_012655.2:g.9344G>A
• NM_001163817.2:c.226G>A
• NM_001360.3:c.226G>AMANE SELECT
• NP_001157289.1:p.Val76Ile
• NP_001351.2:p.Val76Ile
• NP_001351.2:p.Val76Ile
• LRG_340t1:c.226G>A
• LRG_340:g.9344G>A
• LRG_340p1:p.Val76Ile
• NC_000011.9:g.71155134C>T
• NM_001360.2:c.226G>A

This HGVS expression did not pass validation

Protein change:

V76I

Links:

dbSNP: rs368473756

NCBI 1000 Genomes Browser:

rs368473756

Molecular consequence:

• NM_001163817.2:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360.3:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1