Full data view for gene GRB10

Information The variants shown are described using the 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.-124+363T>C r.(=) p.(=) Both (homozygous) - VUS g.50823221A>G g.50755524A>G - - GRB10_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-124+368G>A r.(=) p.(=) Both (homozygous) - VUS g.50823216C>T g.50755519C>T - - GRB10_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-104C>T r.(?) p.(=) Unknown - VUS g.50771586G>A - GRB10(NM_005311.4):c.71C>T (p.(Pro24Leu)) - GRB10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.(?_-1)_(*1_?)dup r.(=) p.(=) Maternal (confirmed) - VUS g.(50500001_54000000)ins(43300001_45400000)_(50500001_54000000)inv - - 46,XX,dup(7)(p13p12.1)mat.ish dup(7)(946H08+,810G02++,896D09+) GRB10_000003 inversion/duplication incl. GRB10, IGFBP1, but not EGFR, 946H08+,810G02++,896D09+; UPD (7)mat = excluded PubMed: Joyce 1999, PubMed: Monk 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium - - Germline - - - - - DNA microscope, FISH, PCRq - - ?, SRS;RSS 10987657-FamPatLB PubMed: Joyce 1999, PubMed: Monk 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium daughter of TB F - United Kingdom (Great Britain) - - - - - 1 Zeynep Tümer
?/. - c.(?_-1)_(*1_?)dup r.(=) p.(=) Paternal (confirmed) - VUS g.(50500001_54000000)ins(43300001_45400000)_(50500001_54000000)inv - - 46,XX,dup(7)(p13p12.1)dn.ish GRB10_000003 inversion/duplication incl. GRB10, IGFBP1, but not EGFR, 946H08+,810G02++,896D09+; UPD (7)mat = excluded PubMed: Joyce 1999, PubMed: Monk 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium - - De novo - - - - - DNA microscope, FISH - - ?, SRS;RSS 10987657-FamPatTB PubMed: Joyce 1999, PubMed: Monk 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium 2-generation family, affected mother/Daughter, mother of patient LB F - United Kingdom (Great Britain) - - - - - 2 Zeynep Tümer
?/. - c.(?_-1)_(*1_?)dup r.(=) p.(=) Maternal (confirmed) - pathogenic g.(40174000_40900000)_(45400001_54000000)dup - - 46,XX,dup(7)(p14.1p12)dn.ish GRB10_000003 duplication, break point within C7orf10 gene, extra signal DJ1178G3 PubMed: Monk 2000, PubMed: Monk 2002, PubMed: Nakabayashi 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium - - De novo - - - - - DNA microscope, FISH - - ?, SRS;RSS 10631135-PatDP, 11829489-Pat4 PubMed: Monk 2000, PubMed: Monk 2002, PubMed: Nakabayashi 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium - F - - - - - - - 1 Zeynep Tümer
?/. - c.1351C>G r.(?) p.(Gln451Glu) Unknown - VUS g.50671714G>C - GRB10(NM_005311.4):c.1525C>G (p.(Gln509Glu)) - GRB10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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