Unique variants in gene NSF

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

3 entries on 1 page. Showing entries 1 - 3.
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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 (p.(Asn126Lys)) - NSF_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1205G>A likely benign r.(?) p.(Gly402Asp) g.44771859G>A - NSF(NM_006178.3):c.1205G>A (p.(Gly402Asp)) - NSF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2104_2105insC VUS r.(?) p.(Lys702Thrfs*22) g.44828929_44828930insC - NSF(NM_006178.3):c.2104_2105insC (p.Lys702fs) - NSF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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