ClinVar

NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32386378 (on Assembly GRCh38)
• ChrX: 32404495 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter)

HGVS:

• NC_000023.11:g.32386378C>A
• NG_012232.1:g.958232G>T
• NM_000109.4:c.4582G>T
• NM_004006.3:c.4606G>TMANE SELECT
• NM_004009.3:c.4594G>T
• NM_004010.3:c.4237G>T
• NM_004011.4:c.583G>T
• NM_004012.4:c.574G>T
• NP_000100.3:p.Glu1528Ter
• NP_003997.1:p.Glu1536Ter
• NP_003997.2:p.Glu1536Ter
• NP_004000.1:p.Glu1532Ter
• NP_004001.1:p.Glu1413Ter
• NP_004002.3:p.Glu195Ter
• NP_004003.2:p.Glu192Ter
• LRG_199t1:c.4606G>T
• LRG_199:g.958232G>T
• LRG_199p1:p.Glu1536Ter
• NC_000023.10:g.32404495C>A
• NM_004006.2:c.4606G>T

This HGVS expression did not pass validation

Protein change:

E1413*

Links:

dbSNP: rs863224998

NCBI 1000 Genomes Browser:

rs863224998

Molecular consequence:

• NM_000109.4:c.4582G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004006.3:c.4606G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004009.3:c.4594G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004010.3:c.4237G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004011.4:c.583G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004012.4:c.574G>T - nonsense - [Sequence Ontology: SO:0001587]