ClinVar

NM_004006.3(DMD):c.3276+1G>A

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32464585 (on Assembly GRCh38)
• ChrX: 32482702 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.3276+1G>A

HGVS:

• NC_000023.11:g.32464585C>T
• NG_012232.1:g.880025G>A
• NM_000109.4:c.3252+1G>A
• NM_004006.3:c.3276+1G>AMANE SELECT
• NM_004009.3:c.3264+1G>A
• NM_004010.3:c.2907+1G>A
• LRG_199t1:c.3276+1G>A
• LRG_199:g.880025G>A
• NC_000023.10:g.32482702C>T
• NM_004006.2:c.3276+1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs398123934

NCBI 1000 Genomes Browser:

rs398123934

Molecular consequence:

• NM_000109.4:c.3252+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_004006.3:c.3276+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_004009.3:c.3264+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_004010.3:c.2907+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1