ClinVar

NM_001002862.3(DERL3):c.615-17C>T

Genes:

SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
DERL3:derlin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.23

Genomic location:

• Chr22: 23836979 (on Assembly GRCh38)
• Chr22: 24179166 (on Assembly GRCh37)

Preferred name:

NM_001002862.3(DERL3):c.615-17C>T

HGVS:

• NC_000022.11:g.23836979G>A
• NM_001002862.3:c.615-17C>TMANE SELECT
• NM_001007468.3:c.*2799G>A
• NM_001135751.2:c.614+85C>T
• NM_001317946.2:c.*2799G>A
• NM_001362877.2:c.*2799G>A
• NM_001363072.2:c.614+85C>T
• NM_003073.5:c.*2799G>AMANE SELECT
• NM_198440.4:c.*81C>T
• NC_000022.10:g.24179166G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001007468.3:c.*2799G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001317946.2:c.*2799G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001362877.2:c.*2799G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_003073.5:c.*2799G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_198440.4:c.*81C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001002862.3:c.615-17C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001135751.2:c.614+85C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363072.2:c.614+85C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1