ClinVar

NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

• Chr2: 71669179 (on Assembly GRCh38)
• Chr2: 71896309 (on Assembly GRCh37)

Preferred name:

NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter)

HGVS:

• NC_000002.12:g.71669179G>T
• NG_008694.1:g.220557G>T
• NM_001130455.2:c.5500G>T
• NM_001130976.2:c.5455G>T
• NM_001130977.2:c.5518G>T
• NM_001130978.2:c.5560G>T
• NM_001130979.2:c.5590G>T
• NM_001130980.2:c.5548G>T
• NM_001130981.2:c.5611G>T
• NM_001130982.2:c.5593G>T
• NM_001130983.2:c.5563G>T
• NM_001130984.2:c.5521G>T
• NM_001130985.2:c.5551G>T
• NM_001130986.2:c.5458G>T
• NM_001130987.2:c.5614G>TMANE SELECT
• NM_003494.4:c.5497G>T
• NP_001123927.1:p.Glu1834Ter
• NP_001124448.1:p.Glu1819Ter
• NP_001124449.1:p.Glu1840Ter
• NP_001124450.1:p.Glu1854Ter
• NP_001124451.1:p.Glu1864Ter
• NP_001124452.1:p.Glu1850Ter
• NP_001124453.1:p.Glu1871Ter
• NP_001124454.1:p.Glu1865Ter
• NP_001124455.1:p.Glu1855Ter
• NP_001124456.1:p.Glu1841Ter
• NP_001124457.1:p.Glu1851Ter
• NP_001124458.1:p.Glu1820Ter
• NP_001124459.1:p.Glu1872Ter
• NP_003485.1:p.Glu1833Ter
• LRG_845t1:c.5497G>T
• LRG_845t2:c.5614G>T
• LRG_845:g.220557G>T
• LRG_845p1:p.Glu1833Ter
• LRG_845p2:p.Glu1872Ter
• NC_000002.11:g.71896309G>T
• NM_003494.3:c.5497G>T
• NP_003485.1:p.Glu1833*
• NP_003485.1:p.Glu1833*

This HGVS expression did not pass validation

Protein change:

E1819*

Links:

dbSNP: rs201592500

NCBI 1000 Genomes Browser:

rs201592500

Molecular consequence:

• NM_001130455.2:c.5500G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130976.2:c.5455G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130977.2:c.5518G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130978.2:c.5560G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130979.2:c.5590G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130980.2:c.5548G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130981.2:c.5611G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130982.2:c.5593G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130983.2:c.5563G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130984.2:c.5521G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130985.2:c.5551G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130986.2:c.5458G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001130987.2:c.5614G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003494.4:c.5497G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1