ClinVar

NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 46756036 (on Assembly GRCh38)
• Chr19: 47259293 (on Assembly GRCh37)

Preferred name:

NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)

HGVS:

• NC_000019.10:g.46756036G>A
• NG_008898.2:g.14991G>A
• NM_001039885.3:c.586G>A
• NM_024301.5:c.586G>AMANE SELECT
• NP_001034974.1:p.Gly196Arg
• NP_077277.1:p.Gly196Arg
• LRG_761t1:c.586G>A
• LRG_761:g.14991G>A
• LRG_761p1:p.Gly196Arg
• NC_000019.9:g.47259293G>A
• NM_024301.4:c.586G>A

This HGVS expression did not pass validation

Protein change:

G196R

Links:

dbSNP: rs759875552

NCBI 1000 Genomes Browser:

rs759875552

Molecular consequence:

• NM_001039885.3:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024301.5:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1