ClinVar

NM_024301.5(FKRP):c.969C>T (p.Arg323=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 46756419 (on Assembly GRCh38)
• Chr19: 47259676 (on Assembly GRCh37)

Preferred name:

NM_024301.5(FKRP):c.969C>T (p.Arg323=)

HGVS:

• NC_000019.10:g.46756419C>T
• NG_008898.2:g.15374C>T
• NM_001039885.3:c.969C>T
• NM_024301.5:c.969C>TMANE SELECT
• NP_001034974.1:p.Arg323=
• NP_077277.1:p.Arg323=
• LRG_761t1:c.969C>T
• LRG_761:g.15374C>T
• LRG_761p1:p.Arg323=
• NC_000019.9:g.47259676C>T
• NM_024301.4:c.969C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs532054402

NCBI 1000 Genomes Browser:

rs532054402

Molecular consequence:

• NM_001039885.3:c.969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024301.5:c.969C>T - synonymous variant - [Sequence Ontology: SO:0001819]