ClinVar

NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)

Gene:

FKRP:fukutin related protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 46756420 (on Assembly GRCh38)
• Chr19: 47259677 (on Assembly GRCh37)

Preferred name:

NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)

HGVS:

• NC_000019.10:g.46756420G>T
• NG_008898.2:g.15375G>T
• NM_001039885.3:c.970G>T
• NM_024301.5:c.970G>TMANE SELECT
• NP_001034974.1:p.Glu324Ter
• NP_077277.1:p.Glu324Ter
• LRG_761t1:c.970G>T
• LRG_761:g.15375G>T
• LRG_761p1:p.Glu324Ter
• NC_000019.9:g.47259677G>T
• NM_024301.4:c.970G>T

This HGVS expression did not pass validation

Protein change:

E324*

Links:

dbSNP: rs886044183

NCBI 1000 Genomes Browser:

rs886044183

Molecular consequence:

• NM_001039885.3:c.970G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_024301.5:c.970G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1