ClinVar

NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

• Chr2: 71568053 (on Assembly GRCh38)
• Chr2: 71795183 (on Assembly GRCh37)

Preferred name:

NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)

HGVS:

• NC_000002.12:g.71568053G>A
• NG_008694.1:g.119431G>A
• NM_001130455.2:c.2617G>A
• NM_001130976.2:c.2572G>A
• NM_001130977.2:c.2572G>A
• NM_001130978.2:c.2614G>A
• NM_001130979.2:c.2707G>A
• NM_001130980.2:c.2665G>A
• NM_001130981.2:c.2665G>A
• NM_001130982.2:c.2710G>A
• NM_001130983.2:c.2617G>A
• NM_001130984.2:c.2575G>A
• NM_001130985.2:c.2668G>A
• NM_001130986.2:c.2575G>A
• NM_001130987.2:c.2668G>AMANE SELECT
• NM_003494.4:c.2614G>A
• NP_001123927.1:p.Glu873Lys
• NP_001124448.1:p.Glu858Lys
• NP_001124449.1:p.Glu858Lys
• NP_001124450.1:p.Glu872Lys
• NP_001124451.1:p.Glu903Lys
• NP_001124452.1:p.Glu889Lys
• NP_001124453.1:p.Glu889Lys
• NP_001124454.1:p.Glu904Lys
• NP_001124455.1:p.Glu873Lys
• NP_001124456.1:p.Glu859Lys
• NP_001124457.1:p.Glu890Lys
• NP_001124458.1:p.Glu859Lys
• NP_001124459.1:p.Glu890Lys
• NP_003485.1:p.Glu872Lys
• LRG_845t1:c.2614G>A
• LRG_845t2:c.2668G>A
• LRG_845:g.119431G>A
• LRG_845p1:p.Glu872Lys
• LRG_845p2:p.Glu890Lys
• NC_000002.11:g.71795183G>A
• NM_003494.3:c.2614G>A

This HGVS expression did not pass validation

Protein change:

E858K

Links:

dbSNP: rs200049922

NCBI 1000 Genomes Browser:

rs200049922

Molecular consequence:

• NM_001130455.2:c.2617G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130976.2:c.2572G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130977.2:c.2572G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130978.2:c.2614G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130979.2:c.2707G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130980.2:c.2665G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130981.2:c.2665G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130982.2:c.2710G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130983.2:c.2617G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130984.2:c.2575G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130985.2:c.2668G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130986.2:c.2575G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130987.2:c.2668G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003494.4:c.2614G>A - missense variant - [Sequence Ontology: SO:0001583]