ClinVar

NM_004006.3(DMD):c.3273C>T (p.Cys1091=)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32464589 (on Assembly GRCh38)
• ChrX: 32482706 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.3273C>T (p.Cys1091=)

HGVS:

• NC_000023.11:g.32464589G>A
• NG_012232.1:g.880021C>T
• NM_000109.4:c.3249C>T
• NM_004006.3:c.3273C>TMANE SELECT
• NM_004009.3:c.3261C>T
• NM_004010.3:c.2904C>T
• NP_000100.3:p.Cys1083=
• NP_003997.2:p.Cys1091=
• NP_004000.1:p.Cys1087=
• NP_004001.1:p.Cys968=
• LRG_199:g.880021C>T
• NC_000023.10:g.32482706G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs757027812

NCBI 1000 Genomes Browser:

rs757027812

Molecular consequence:

• NM_000109.4:c.3249C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004006.3:c.3273C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004009.3:c.3261C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004010.3:c.2904C>T - synonymous variant - [Sequence Ontology: SO:0001819]