ClinVar

NM_024598.4(USB1):c.99-36G>A

Gene:

USB1:U6 snRNA biogenesis phosphodiesterase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q21

Genomic location:

• Chr16: 58002443 (on Assembly GRCh38)
• Chr16: 58036347 (on Assembly GRCh37)

Preferred name:

NM_024598.4(USB1):c.99-36G>A

HGVS:

• NC_000016.10:g.58002443G>A
• NG_027698.1:g.6071G>A
• NM_001195302.2:c.99-36G>A
• NM_001204911.2:c.99-36G>A
• NM_001330568.2:c.-55-36G>A
• NM_001330569.2:c.99-36G>A
• NM_024598.4:c.99-36G>AMANE SELECT
• LRG_352:g.6071G>A
• NC_000016.9:g.58036347G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs3743560

NCBI 1000 Genomes Browser:

rs3743560

Molecular consequence:

• NM_001195302.2:c.99-36G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204911.2:c.99-36G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330568.2:c.-55-36G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330569.2:c.99-36G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_024598.4:c.99-36G>A - intron variant - [Sequence Ontology: SO:0001627]