ClinVar

NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 71442300 (on Assembly GRCh38)
• Chr11: 71153346 (on Assembly GRCh37)

Preferred name:

NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)

HGVS:

• NC_000011.10:g.71442300G>A
• NG_012655.2:g.11132C>T
• NM_001163817.2:c.375C>T
• NM_001360.3:c.375C>TMANE SELECT
• NP_001157289.1:p.Tyr125=
• NP_001351.2:p.Tyr125=
• LRG_340:g.11132C>T
• NC_000011.9:g.71153346G>A
• NM_001360.2:c.375C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs779401555

NCBI 1000 Genomes Browser:

rs779401555

Molecular consequence:

• NM_001163817.2:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001360.3:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1