ClinVar

NM_004006.3(DMD):c.3177C>G (p.Thr1059=)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32464685 (on Assembly GRCh38)
• ChrX: 32482802 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.3177C>G (p.Thr1059=)

HGVS:

• NC_000023.11:g.32464685G>C
• NG_012232.1:g.879925C>G
• NM_000109.4:c.3153C>G
• NM_004006.3:c.3177C>GMANE SELECT
• NM_004009.3:c.3165C>G
• NM_004010.3:c.2808C>G
• NP_000100.3:p.Thr1051=
• NP_003997.2:p.Thr1059=
• NP_004000.1:p.Thr1055=
• NP_004001.1:p.Thr936=
• LRG_199:g.879925C>G
• NC_000023.10:g.32482802G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs755632126

NCBI 1000 Genomes Browser:

rs755632126

Molecular consequence:

• NM_000109.4:c.3153C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004006.3:c.3177C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004009.3:c.3165C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004010.3:c.2808C>G - synonymous variant - [Sequence Ontology: SO:0001819]