Full data view for gene SLC27A4

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     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-6-431dup r.(=) p.(=) Unknown - VUS g.131104975dup g.128342696dup - - SLC27A4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.297T>C r.(?) p.(Asp99=) Unknown - likely benign g.131107569T>C - SLC27A4(NM_005094.3):c.297T>C (p.D99=) - SLC27A4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.520G>A r.(?) p.(Ala174Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.596G>A r.(?) p.(Ser199Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.963C>T r.(?) p.(Asp321=) Unknown - likely benign g.131115002C>T - SLC27A4(NM_005094.3):c.963C>T (p.D321=) - SLC27A4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1052A>G r.(?) p.(Asn351Ser) Parent #2 - 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 - - 0 - DNA arraySNP, SEQ, SEQ-NG - - CMT 22012984-Fam PubMed: Weterman 2012, PubMed: Aerts 2015 3-generation family, 11 affected (5F, 6M) heterozygous carriers F;M no Netherlands - - 0 - - 11 Johan den Dunnen
?/. - c.1331C>T r.(?) p.(Pro444Leu) Unknown - VUS g.131117338C>T - SLC27A4(NM_005094.3):c.1331C>T (p.P444L) - SLC27A4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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