All transcript 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     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
-?/. - c.-8913A>C r.(?) p.(=) - likely benign g.64898466T>G g.65130995T>G SYVN1(NM_032431.2):c.866A>C (p.(Asn289Thr)) - SYVN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-8856A>C r.(?) p.(=) - likely benign g.64898409T>G g.65130938T>G SYVN1(NM_032431.2):c.923A>C (p.(Asn308Thr)) - SYVN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-6339C>T r.(?) p.(=) - VUS g.64895892G>A g.65128420G>A SYVN1(NM_172230.2):c.1816C>T (p.(Arg606Cys)) - SYVN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-3721G>C r.(?) p.(=) - VUS g.64893274C>G g.65125802C>G MRPL49(NM_004927.3):c.431C>G (p.(Thr144Arg)) - MRPL49_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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