ClinVar

NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

• Chr2: 71611292 (on Assembly GRCh38)
• Chr2: 71838422 (on Assembly GRCh37)

Preferred name:

NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=)

HGVS:

• NC_000002.12:g.71611292C>T
• NG_008694.1:g.162670C>T
• NM_001130455.2:c.3954C>T
• NM_001130976.2:c.3909C>T
• NM_001130977.2:c.3909C>T
• NM_001130978.2:c.3951C>T
• NM_001130979.2:c.4044C>T
• NM_001130980.2:c.4002C>T
• NM_001130981.2:c.4002C>T
• NM_001130982.2:c.4047C>T
• NM_001130983.2:c.3954C>T
• NM_001130984.2:c.3912C>T
• NM_001130985.2:c.4005C>T
• NM_001130986.2:c.3912C>T
• NM_001130987.2:c.4005C>TMANE SELECT
• NM_003494.4:c.3951C>T
• NP_001123927.1:p.Asn1318=
• NP_001124448.1:p.Asn1303=
• NP_001124449.1:p.Asn1303=
• NP_001124450.1:p.Asn1317=
• NP_001124451.1:p.Asn1348=
• NP_001124452.1:p.Asn1334=
• NP_001124453.1:p.Asn1334=
• NP_001124454.1:p.Asn1349=
• NP_001124455.1:p.Asn1318=
• NP_001124456.1:p.Asn1304=
• NP_001124457.1:p.Asn1335=
• NP_001124458.1:p.Asn1304=
• NP_001124459.1:p.Asn1335=
• NP_003485.1:p.Asn1317=
• LRG_845t1:c.3951C>T
• LRG_845t2:c.4005C>T
• LRG_845:g.162670C>T
• LRG_845p1:p.Asn1317=
• LRG_845p2:p.Asn1335=
• NC_000002.11:g.71838422C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201966225

NCBI 1000 Genomes Browser:

rs201966225

Molecular consequence:

• NM_001130455.2:c.3954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130976.2:c.3909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130977.2:c.3909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130978.2:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130979.2:c.4044C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130980.2:c.4002C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130981.2:c.4002C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130982.2:c.4047C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130983.2:c.3954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130984.2:c.3912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130985.2:c.4005C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130986.2:c.3912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130987.2:c.4005C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003494.4:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]