ClinVar

NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 31836767 (on Assembly GRCh38)
• ChrX: 31854884 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)

HGVS:

• NC_000023.11:g.31836767G>T
• NG_012232.1:g.1507843C>A
• NM_000109.4:c.7127C>A
• NM_004006.3:c.7151C>AMANE SELECT
• NM_004009.3:c.7139C>A
• NM_004010.3:c.6782C>A
• NM_004011.4:c.3128C>A
• NM_004012.4:c.3119C>A
• NM_004013.3:c.-230C>A
• NM_004020.4:c.-230C>A
• NM_004021.3:c.-230C>A
• NM_004022.3:c.-230C>A
• NM_004023.3:c.-230C>A
• NP_000100.3:p.Ser2376Tyr
• NP_003997.1:p.Ser2384Tyr
• NP_003997.2:p.Ser2384Tyr
• NP_004000.1:p.Ser2380Tyr
• NP_004001.1:p.Ser2261Tyr
• NP_004002.3:p.Ser1043Tyr
• NP_004003.2:p.Ser1040Tyr
• LRG_199t1:c.7151C>A
• LRG_199:g.1507843C>A
• LRG_199p1:p.Ser2384Tyr
• NC_000023.10:g.31854884G>T
• NM_004006.2:c.7151C>A

This HGVS expression did not pass validation

Protein change:

S1040Y

Links:

dbSNP: rs185706283

NCBI 1000 Genomes Browser:

rs185706283

Molecular consequence:

• NM_004013.3:c.-230C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_004020.4:c.-230C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_004021.3:c.-230C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_004022.3:c.-230C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_004023.3:c.-230C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000109.4:c.7127C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004006.3:c.7151C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004009.3:c.7139C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004010.3:c.6782C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004011.4:c.3128C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004012.4:c.3119C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1