Unique variants in gene NSF

Information The variants shown are described using the NM_006178.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.378C>A likely benign r.(?) p.(Asn126Lys) g.44714881C>A - NSF:NM_006178.3:c.378C>A - NSF_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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