Full data view for gene C15orf39

Information The variants shown are described using the NM_015492.4 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.58C>T r.(?) p.(Arg20Cys) Unknown - VUS g.75498447C>T - C15ORF39(NM_015492.4):c.58C>T (p.(Arg20Cys)) - C15orf39_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1403C>A r.(?) p.(Pro468Gln) Unknown - VUS g.75499792C>A - C15ORF39(NM_015492.4):c.1403C>A (p.(Pro468Gln)) - C15orf39_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1459C>T r.(?) p.(Pro487Ser) Unknown - likely benign g.75499848C>T g.75207507C>T C15orf39(NM_015492.5):c.1459C>T (p.P487S) - C15orf39_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2017T>G r.(?) p.(Ser673Ala) Unknown - likely benign g.75500406T>G - C15ORF39(NM_015492.4):c.2017T>G (p.(Ser673Ala)) - C15orf39_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2216G>T r.(?) p.(Arg739Leu) Unknown - likely benign g.75500605G>T g.75208264G>T C15orf39(NM_015492.5):c.2216G>T (p.R739L) - C15orf39_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2683C>T r.(?) p.(Arg895Cys) Unknown - VUS g.75501072C>T g.75208731C>T C15orf39(NM_015492.4):c.2683C>T (p.(Arg895Cys)) - C15orf39_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3086G>A r.(?) p.(Arg1029Lys) Both (homozygous) - likely benign g.75503399G>A g.75211058G>A - - C15orf39_000001 - PubMed: Prontera 2015, Journal: Prontera 2015 - rs149175372 Germline no - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - SHORT - PubMed: Prontera 2015, Journal: Prontera 2015 5-generation family, 1 affected (SHORT syndrome), heterozygous carriers have short stature F yes Italy - - - - - 1 B. Augello
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