ClinVar

NM_004006.3(DMD):c.4878G>T (p.Val1626=)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 32365167 (on Assembly GRCh38)
• ChrX: 32383284 (on Assembly GRCh37)

Preferred name:

NM_004006.3(DMD):c.4878G>T (p.Val1626=)

Other names:

p.V1626V:GTG>GTT

HGVS:

• NC_000023.11:g.32365167C>A
• NG_012232.1:g.979443G>T
• NM_000109.4:c.4854G>T
• NM_004006.3:c.4878G>TMANE SELECT
• NM_004009.3:c.4866G>T
• NM_004010.3:c.4509G>T
• NM_004011.4:c.855G>T
• NM_004012.4:c.846G>T
• NP_000100.3:p.Val1618=
• NP_003997.1:p.Val1626=
• NP_003997.2:p.Val1626=
• NP_004000.1:p.Val1622=
• NP_004001.1:p.Val1503=
• NP_004002.3:p.Val285=
• NP_004003.2:p.Val282=
• LRG_199t1:c.4878G>T
• LRG_199:g.979443G>T
• LRG_199p1:p.Val1626=
• NC_000023.10:g.32383284C>A
• NM_004006.2:c.4878G>T
• NM_004023.1:c.-210739G>T
• NP_003997.1:p.(=)
• p.Val1626Val

This HGVS expression did not pass validation

Links:

dbSNP: rs61733574

NCBI 1000 Genomes Browser:

rs61733574

Molecular consequence:

• NM_000109.4:c.4854G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004006.3:c.4878G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004009.3:c.4866G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004010.3:c.4509G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004011.4:c.855G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004012.4:c.846G>T - synonymous variant - [Sequence Ontology: SO:0001819]