Unique variants in the SLC27A4 gene

Information The variants shown are described using the NM_005094.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

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     
?/. 1 - c.-6-431dup r.(=) p.(=) - VUS g.131104975dup g.128342696dup - - SLC27A4_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.297T>C r.(?) p.(Asp99=) - likely benign g.131107569T>C - SLC27A4(NM_005094.3):c.297T>C (p.D99=) - SLC27A4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.520G>A r.(?) p.(Ala174Thr) - VUS g.131107792G>A g.128345513G>A SLC27A4(NM_005094.3):c.520G>A (p.A174T) - SLC27A4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.596G>A r.(?) p.(Ser199Asn) - VUS g.131110863G>A g.128348584G>A SLC27A4(NM_005094.3):c.596G>A (p.S199N) - SLC27A4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.963C>T r.(?) p.(Asp321=) - likely benign g.131115002C>T - SLC27A4(NM_005094.3):c.963C>T (p.D321=) - SLC27A4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1052A>G r.(?) p.(Asn351Ser) - likely benign g.131115368A>G g.128353089A>G - - SLC27A4_000003 found in 2/3 healthy individuals, absent in 4/5 affected PubMed: Weterman 2012 - - Germline no - - - - Johan den Dunnen
?/. 1 - c.1331C>T r.(?) p.(Pro444Leu) - VUS g.131117338C>T - SLC27A4(NM_005094.3):c.1331C>T (p.P444L) - SLC27A4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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