Full data view for gene TMEM216

Information The variants shown are described using the NM_001173990.2 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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     

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Age at death     

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+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT1Pat PubMed: Malka 2024 - M no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT2PatA PubMed: Malka 2024 2-generation family, 2 affected sister, unaffected parents F no Nigeria Africa;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT2PatB PubMed: Malka 2024 sister F no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT3Pat PubMed: Malka 2024 - M no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT4Pat PubMed: Malka 2024 - F no Barbados Caribbean;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT5Pat PubMed: Malka 2024 - M no - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT6Pat PubMed: Malka 2024 - F no Zimbabwe Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT7PatA PubMed: Malka 2024 2-generation family, 2 affected brother, unaffected parents F no Nigeria Africa;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT7PatB PubMed: Malka 2024 relative M no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT8Pat PubMed: Malka 2024 - F no Jamaica Africa;black;Caribbean;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT9PatA PubMed: Malka 2024 2-generation family, 2 affected brother, unaffected parents M no Jamaica;Barbados Caribbean;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT9PatB PubMed: Malka 2024 relative M no Jamaica;Barbados Caribbean;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT10Pat PubMed: Malka 2024 - F no - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP Fam11Pat PubMed: Malka 2024 - F no - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT12Pat PubMed: Malka 2024 - F no Zimbabwe Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT13Pat PubMed: Malka 2024 - F no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT14Pat PubMed: Malka 2024 - F no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT15PatA PubMed: Malka 2024 2-generation family, 2 affected brother, unaffected parents F - - Africa;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT15PatB PubMed: Malka 2024 relative F - - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT16Pat PubMed: Malka 2024 - M - - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT17Pat PubMed: Malka 2024 - F - - black;Caribbean - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT18Pat PubMed: Malka 2024 - M - - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT19Pat PubMed: Malka 2024 - F - - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT20Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents M no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT21Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT22Pat PubMed: Malka 2024 2-generation family, affected brother/sister, unaffected parents M yes - Africa;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT23Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no Haiti Caribbean;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT24Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Angola Africa - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT25Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no United States African American - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT26Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no United States African American - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT27Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no - black;Caribbean - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT28Pat PubMed: Malka 2024 2-generation family, 2 affected, unaffected parents M no - black;Caribbean - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT29Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no United States African American - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT30Pat PubMed: Malka 2024 2-generation family, 2 affected, unaffected parents M no United States African American - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT31Pat PubMed: Malka 2024 2-generation family, 2 affected sisters, unaffected parents F no Jamaica Caribbean;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT32Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no United States African American - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT33Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no Algeria Africa - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT34Pat PubMed: Malka 2024 - M no - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT35Pat PubMed: Malka 2024 - F no - black;Caribbean - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT36Pat PubMed: Malka 2024 - M no - black;Caribbean - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT37Pat PubMed: Malka 2024 - F no Ghana Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT38Pat PubMed: Malka 2024 - F - - Africa - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Parent #1 - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamM1Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no - black;Caribbean - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Parent #1 - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamM2PatA PubMed: Malka 2024 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Zimbabwe Africa;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Parent #1 - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamM2PatB PubMed: Malka 2024 brother M no Zimbabwe Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Unknown - NA g.61160035G>T g.61392563G>T - - TMEM216_000026 luciferase reporter gene assay showed reduced promotor activity PubMed: Malka 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
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