Unique variants in gene SLC16A8

Information The variants shown are described using the NM_013356.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.-4127_-4126insTCCCCCATG VUS r.(?) p.(=) g.38483166_38483167insCATGGGGGA - BAIAP2L2(NM_025045.4):c.1224_1225insTCCCCCATG (p.(Ser406_Met408dup)) - BAIAP2L2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.487C>T likely benign r.(?) p.(Leu163Phe) g.38477558G>A - SLC16A8(NM_013356.2):c.487C>T (p.(Leu163Phe)) - BAIAP2L2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.841G>A likely benign r.(?) p.(Ala281Thr) g.38477204C>T - SLC16A8(NM_013356.2):c.841G>A (p.(Ala281Thr)) - SLC16A8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1504G>A likely benign r.(?) p.(Glu502Lys) g.38474406C>T - SLC16A8(NM_013356.2):c.1504G>A (p.(Glu502Lys)) - BAIAP2L2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4088C>G likely benign r.(=) p.(=) g.38470307G>C - PICK1(NM_001039583.1):c.835-7G>C (p.(=)) - PICK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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