Full data view for gene DHCR24

Information The variants shown are described using the NM_014762.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.81C>T r.(?) p.(Leu27=) Unknown - likely benign g.55352712G>A - DHCR24(NM_014762.4):c.81C>T (p.L27=) - DHCR24_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.163T>A r.(?) p.(Trp55Arg) Unknown - VUS g.55352630A>T - DHCR24(NM_014762.4):c.163T>A (p.W55R) - DHCR24_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231+6C>T r.(=) p.(=) Unknown - likely benign g.55352556G>A g.54886883G>A DHCR24(NM_014762.3):c.231+6C>T (p.(=)) - DHCR24_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.731C>T r.(?) p.(Pro244Leu) Unknown - VUS g.55337168G>A g.54871495G>A DHCR24(NM_014762.3):c.731C>T (p.(Pro244Leu)) - DHCR24_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1020+10A>G r.(=) p.(=) Unknown - benign g.55330966T>C g.54865293T>C DHCR24(NM_014762.4):c.1020+10A>G - DHCR24_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1020+10A>G r.(=) p.(=) Unknown - benign g.55330966T>C g.54865293T>C DHCR24(NM_014762.4):c.1020+10A>G - DHCR24_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1026T>C r.(?) p.(Ile342=) Unknown - benign g.55319902A>G g.54854229A>G DHCR24(NM_014762.4):c.1026T>C (p.I342=) - DHCR24_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1417G>A r.(?) p.(Asp473Asn) Both (homozygous) ACMG likely pathogenic (recessive) g.55318040C>T g.54852367C>T - - DHCR24_000013 - PubMed: Hu 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ID M8900199-1 PubMed: Hu 2019 family, 3 affected individuals, third cousin parents - yes Iran Persia - 0 - - 3 Johan den Dunnen
?/. - c.*102C>T r.(=) p.(=) Parent #1 - VUS g.55317804G>A g.54852131G>A - - DHCR24_000010 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114267476 Germline - 19/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 19 Mohammed Faruq
-?/. - c.*1965C>A r.(=) p.(=) Parent #1 - likely benign g.55315941G>T g.54850268G>T - - DHCR24_000009 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11555500 Germline - 24/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 24 Mohammed Faruq
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