ClinVar

NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32365029 (on Assembly GRCh38)
• ChrX: 32383146 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)

Other names:

p.N1672K:AAT>AAA; NM_000109.3(DMD):c.4992T>A(p.Asn1664Lys); NM_004006.2(DMD):c.5016T>A(p.Asn1672Lys); NM_004009.3(DMD):c.5004T>A(p.Asn1668Lys); NM_004010.3(DMD):c.4647T>A(p.Asn1549Lys); NM_004011.3(DMD):c.993T>A(p.Asn331Lys); NM_004012.3(DMD):c.984T>A(p.Asn328Lys)

HGVS:

• NC_000023.11:g.32365029A>T
• NG_012232.1:g.979581T>A
• NM_000109.4:c.4992T>A
• NM_004006.3:c.5016T>AMANE SELECT
• NM_004009.3:c.5004T>A
• NM_004010.3:c.4647T>A
• NM_004011.4:c.993T>A
• NM_004012.4:c.984T>A
• NP_000100.3:p.Asn1664Lys
• NP_003997.1:p.Asn1672Lys
• NP_003997.2:p.Asn1672Lys
• NP_004000.1:p.Asn1668Lys
• NP_004001.1:p.Asn1549Lys
• NP_004002.3:p.Asn331Lys
• NP_004003.2:p.Asn328Lys
• LRG_199t1:c.5016T>A
• LRG_199:g.979581T>A
• LRG_199p1:p.Asn1672Lys
• NC_000023.10:g.32383146A>T
• NM_004006.2:c.5016T>A
• NM_004006.2:c.5016T>A
• NM_004019.2:c.-1098200T>A

This HGVS expression did not pass validation

Protein change:

N1549K

Links:

dbSNP: rs16990264

NCBI 1000 Genomes Browser:

rs16990264

Molecular consequence:

• NM_000109.4:c.4992T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004006.3:c.5016T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004009.3:c.5004T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004010.3:c.4647T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004011.4:c.993T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004012.4:c.984T>A - missense variant - [Sequence Ontology: SO:0001583]