Unique variants in gene FAU

Information The variants shown are described using the NM_001997.4 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.-8913A>C likely benign r.(?) p.(=) g.64898466T>G - SYVN1(NM_032431.2):c.866A>C (p.(Asn289Thr)) - SYVN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-8856A>C likely benign r.(?) p.(=) g.64898409T>G - SYVN1(NM_032431.2):c.923A>C (p.(Asn308Thr)) - SYVN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-6339C>T VUS r.(?) p.(=) g.64895892G>A - SYVN1(NM_172230.2):c.1816C>T (p.(Arg606Cys)) - SYVN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-3721G>C VUS r.(?) p.(=) g.64893274C>G - MRPL49(NM_004927.3):c.431C>G (p.(Thr144Arg)) - MRPL49_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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