ClinVar

NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32573611 (on Assembly GRCh38)
• ChrX: 32591728 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)

Other names:

p.E577D:GAA>GAT

HGVS:

• NC_000023.11:g.32573611T>A
• NG_012232.1:g.770999A>T
• NM_000109.4:c.1707A>T
• NM_004006.3:c.1731A>TMANE SELECT
• NM_004009.3:c.1719A>T
• NM_004010.3:c.1362A>T
• NP_000100.3:p.Glu569Asp
• NP_003997.1:p.Glu577Asp
• NP_003997.2:p.Glu577Asp
• NP_004000.1:p.Glu573Asp
• NP_004001.1:p.Glu454Asp
• LRG_199t1:c.1731A>T
• LRG_199:g.770999A>T
• LRG_199p1:p.Glu577Asp
• NC_000023.10:g.32591728T>A
• NM_004006.2:c.1731A>T

This HGVS expression did not pass validation

Protein change:

E454D

Links:

dbSNP: rs150199251

NCBI 1000 Genomes Browser:

rs150199251

Molecular consequence:

• NM_000109.4:c.1707A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004006.3:c.1731A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004009.3:c.1719A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004010.3:c.1362A>T - missense variant - [Sequence Ontology: SO:0001583]