ClinVar

NM_024301.5(FKRP):c.249C>T (p.Ala83=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 46755699 (on Assembly GRCh38)
• Chr19: 47258956 (on Assembly GRCh37)

Preferred name:

NM_024301.5(FKRP):c.249C>T (p.Ala83=)

HGVS:

• NC_000019.10:g.46755699C>T
• NG_008898.2:g.14654C>T
• NM_001039885.3:c.249C>T
• NM_024301.5:c.249C>TMANE SELECT
• NP_001034974.1:p.Ala83=
• NP_077277.1:p.Ala83=
• LRG_761t1:c.249C>T
• LRG_761:g.14654C>T
• LRG_761p1:p.Ala83=
• NC_000019.9:g.47258956C>T
• NM_001039885.2:c.249C>T
• NM_024301.4:c.249C>T
• NP_077277.1:p.(=)
• p.Ala83Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs149030303

NCBI 1000 Genomes Browser:

rs149030303

Molecular consequence:

• NM_001039885.3:c.249C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024301.5:c.249C>T - synonymous variant - [Sequence Ontology: SO:0001819]