ClinVar

NM_004006.3(DMD):c.4973G>A (p.Ser1658Asn)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32365072 (on Assembly GRCh38)
• ChrX: 32383189 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.4973G>A (p.Ser1658Asn)

Other names:

p.S1658N:AGT>AAT

HGVS:

• NC_000023.11:g.32365072C>T
• NG_012232.1:g.979538G>A
• NM_000109.4:c.4949G>A
• NM_004006.3:c.4973G>AMANE SELECT
• NM_004009.3:c.4961G>A
• NM_004010.3:c.4604G>A
• NM_004011.4:c.950G>A
• NM_004012.4:c.941G>A
• NP_000100.3:p.Ser1650Asn
• NP_003997.1:p.Ser1658Asn
• NP_003997.2:p.Ser1658Asn
• NP_004000.1:p.Ser1654Asn
• NP_004001.1:p.Ser1535Asn
• NP_004002.3:p.Ser317Asn
• NP_004003.2:p.Ser314Asn
• LRG_199t1:c.4973G>A
• LRG_199:g.979538G>A
• LRG_199p1:p.Ser1658Asn
• NC_000023.10:g.32383189C>T
• NM_004006.2:c.4973G>A

This HGVS expression did not pass validation

Protein change:

S1535N

Links:

dbSNP: rs794728999

NCBI 1000 Genomes Browser:

rs794728999

Molecular consequence:

• NM_000109.4:c.4949G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004006.3:c.4973G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004009.3:c.4961G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004010.3:c.4604G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004011.4:c.950G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004012.4:c.941G>A - missense variant - [Sequence Ontology: SO:0001583]