ClinVar

NM_004006.3(DMD):c.4995C>T (p.Ser1665=)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32365050 (on Assembly GRCh38)
• ChrX: 32383167 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.4995C>T (p.Ser1665=)

HGVS:

• NC_000023.11:g.32365050G>A
• NG_012232.1:g.979560C>T
• NM_000109.4:c.4971C>T
• NM_004006.3:c.4995C>TMANE SELECT
• NM_004009.3:c.4983C>T
• NM_004010.3:c.4626C>T
• NM_004011.4:c.972C>T
• NM_004012.4:c.963C>T
• NP_000100.3:p.Ser1657=
• NP_003997.1:p.Ser1665=
• NP_003997.2:p.Ser1665=
• NP_004000.1:p.Ser1661=
• NP_004001.1:p.Ser1542=
• NP_004002.3:p.Ser324=
• NP_004003.2:p.Ser321=
• LRG_199t1:c.4995C>T
• LRG_199:g.979560C>T
• LRG_199p1:p.Ser1665=
• NC_000023.10:g.32383167G>A
• NM_004006.2:c.4995C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs775659020

NCBI 1000 Genomes Browser:

rs775659020

Molecular consequence:

• NM_000109.4:c.4971C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004006.3:c.4995C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004009.3:c.4983C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004010.3:c.4626C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004011.4:c.972C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004012.4:c.963C>T - synonymous variant - [Sequence Ontology: SO:0001819]