ClinVar

NM_004006.3(DMD):c.5040C>T (p.His1680=)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32364696 (on Assembly GRCh38)
• ChrX: 32382813 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.5040C>T (p.His1680=)

HGVS:

• NC_000023.11:g.32364696G>A
• NG_012232.1:g.979914C>T
• NM_000109.4:c.5016C>T
• NM_004006.3:c.5040C>TMANE SELECT
• NM_004009.3:c.5028C>T
• NM_004010.3:c.4671C>T
• NM_004011.4:c.1017C>T
• NM_004012.4:c.1008C>T
• NP_000100.3:p.His1672=
• NP_003997.1:p.His1680=
• NP_003997.2:p.His1680=
• NP_004000.1:p.His1676=
• NP_004001.1:p.His1557=
• NP_004002.3:p.His339=
• NP_004003.2:p.His336=
• LRG_199t1:c.5040C>T
• LRG_199:g.979914C>T
• LRG_199p1:p.His1680=
• NC_000023.10:g.32382813G>A
• NM_004006.2:c.5040C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs72468632

NCBI 1000 Genomes Browser:

rs72468632

Molecular consequence:

• NM_000109.4:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004006.3:c.5040C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004009.3:c.5028C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004010.3:c.4671C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004011.4:c.1017C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004012.4:c.1008C>T - synonymous variant - [Sequence Ontology: SO:0001819]