ClinVar

NM_004006.3(DMD):c.938C>T (p.Thr313Ile)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32697892 (on Assembly GRCh38)
• ChrX: 32716009 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.938C>T (p.Thr313Ile)

HGVS:

• NC_000023.11:g.32697892G>A
• NG_012232.1:g.646718C>T
• NM_000109.4:c.914C>T
• NM_004006.3:c.938C>TMANE SELECT
• NM_004009.3:c.926C>T
• NM_004010.3:c.569C>T
• NP_000100.3:p.Thr305Ile
• NP_003997.1:p.Thr313Ile
• NP_003997.2:p.Thr313Ile
• NP_004000.1:p.Thr309Ile
• NP_004001.1:p.Thr190Ile
• LRG_199t1:c.938C>T
• LRG_199:g.646718C>T
• LRG_199p1:p.Thr313Ile
• NC_000023.10:g.32716009G>A
• NM_004006.2:c.938C>T

This HGVS expression did not pass validation

Protein change:

T190I

Links:

dbSNP: rs201799335

NCBI 1000 Genomes Browser:

rs201799335

Molecular consequence:

• NM_000109.4:c.914C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004006.3:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004009.3:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004010.3:c.569C>T - missense variant - [Sequence Ontology: SO:0001583]