Full data view for gene STRC


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_153700.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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     
+/. _1_29_ c.-78_*109{0} r.0? p.0? Unknown - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1511 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? Unknown - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1516 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? Both (homozygous) - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1637 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? Both (homozygous) - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1733 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? Both (homozygous) - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1783 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? Unknown - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1800 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? Both (homozygous) - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1812 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? Unknown - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG-I - gene panel deafness S1541 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? Unknown - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1802 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+?/. _1_29_ c.-78_*109{0} r.0? p.0? Both (homozygous) - likely pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del del gene - STRC_000015 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/. _1_29_ c.-78_*109{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del CNV del - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - DNA SEQ-NG-I - - deafness SB118-210 PubMed: Kim 2020, Journal: Kim 2020 - - - Korea - - - - - 1 Doo-Yi Oh
+/. _1_29_ c.-78_*109{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del CNV del - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - DNA SEQ-NG-I - - deafness SB433-840 PubMed: Kim 2020, Journal: Kim 2020 - - - Korea - - - - - 1 Doo-Yi Oh
+/. _1_29_ c.-78_*109{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del CNV del - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - DNA SEQ-NG-I - - deafness SB135-228 PubMed: Kim 2020, Journal: Kim 2020 - - - Korea - - - - - 1 Doo-Yi Oh
+/. _1_29_ c.-78_*109{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - DNA SEQ-NG-I - - deafness SB286-570 PubMed: Kim 2020, Journal: Kim 2020 - - - Korea - - - - - 1 Doo-Yi Oh
+/. _1_29_ c.-78_*109{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del CNV del - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - DNA SEQ-NG-I - - deafness SB287-572 PubMed: Kim 2020, Journal: Kim 2020 - - - Korea - - - - - 1 Doo-Yi Oh
+/. _1_29_ c.-78_*109{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del CNV del - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - DNA SEQ-NG-I - - deafness SB248-480 PubMed: Kim 2020, Journal: Kim 2020 - - - Korea - - - - - 1 Doo-Yi Oh
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