ClinVar

NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

• Chr2: 71570632 (on Assembly GRCh38)
• Chr2: 71797762 (on Assembly GRCh37)

Preferred name:

NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)

HGVS:

• NC_000002.12:g.71570632G>A
• NG_008694.1:g.122010G>A
• NM_001130455.2:c.3068G>A
• NM_001130976.2:c.3023G>A
• NM_001130977.2:c.3023G>A
• NM_001130978.2:c.3065G>A
• NM_001130979.2:c.3158G>A
• NM_001130980.2:c.3116G>A
• NM_001130981.2:c.3116G>A
• NM_001130982.2:c.3161G>A
• NM_001130983.2:c.3068G>A
• NM_001130984.2:c.3026G>A
• NM_001130985.2:c.3119G>A
• NM_001130986.2:c.3026G>A
• NM_001130987.2:c.3119G>AMANE SELECT
• NM_003494.4:c.3065G>A
• NP_001123927.1:p.Arg1023Gln
• NP_001124448.1:p.Arg1008Gln
• NP_001124449.1:p.Arg1008Gln
• NP_001124450.1:p.Arg1022Gln
• NP_001124451.1:p.Arg1053Gln
• NP_001124452.1:p.Arg1039Gln
• NP_001124453.1:p.Arg1039Gln
• NP_001124454.1:p.Arg1054Gln
• NP_001124455.1:p.Arg1023Gln
• NP_001124456.1:p.Arg1009Gln
• NP_001124457.1:p.Arg1040Gln
• NP_001124458.1:p.Arg1009Gln
• NP_001124459.1:p.Arg1040Gln
• NP_003485.1:p.Arg1022Gln
• NP_003485.1:p.Arg1022Gln
• LRG_845t1:c.3065G>A
• LRG_845t2:c.3119G>A
• LRG_845:g.122010G>A
• LRG_845p1:p.Arg1022Gln
• LRG_845p2:p.Arg1040Gln
• NC_000002.11:g.71797762G>A
• NM_003494.3:c.3065G>A
• O75923:p.Arg1022Gln

This HGVS expression did not pass validation

Protein change:

R1008Q

Links:

UniProtKB: O75923#VAR_024861; dbSNP: rs34211915

NCBI 1000 Genomes Browser:

rs34211915

Molecular consequence:

• NM_001130455.2:c.3068G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130976.2:c.3023G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130977.2:c.3023G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130978.2:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130979.2:c.3158G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130980.2:c.3116G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130981.2:c.3116G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130982.2:c.3161G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130983.2:c.3068G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130984.2:c.3026G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130985.2:c.3119G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130986.2:c.3026G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130987.2:c.3119G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003494.4:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]