Full data view for gene MYO1C

Information The variants shown are described using the NM_001080779.1 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.-3877C>T r.(?) p.(=) Unknown - likely benign g.1399658G>A - INPP5K(NM_001135642.1):c.912C>T (p.A304=) - INPP5K_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3686C>G r.(?) p.(=) Unknown - likely benign g.1399467G>C - INPP5K(NM_016532.4):c.1186-9C>G - INPP5K_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3639dup r.(?) p.(=) Unknown - VUS g.1399420dup - INPP5K(NM_016532.4):c.1224dup (p.(Glu409*)) - INPP5K_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223C>A r.(?) p.(Leu75Ile) Unknown - VUS g.1387450G>T g.1484156G>T MYO1C(NM_001080779.1):c.223C>A (p.(Leu75Ile)) - MYO1C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.859G>A r.(?) p.(Val287Ile) Unknown - likely benign g.1383868C>T g.1480574C>T MYO1C(NM_001080779.2):c.859G>A (p.(Val287Ile)) - MYO1C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1244C>T r.(?) p.(Thr415Met) Unknown - VUS g.1381755G>A g.1478461G>A MYO1C(NM_001080779.1):c.1244C>T (p.(Thr415Met)) - MYO1C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1384G>A r.(?) p.(Glu462Lys) Unknown - VUS g.1381398C>T g.1478104C>T - - MYO1C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1482+9T>G r.(=) p.(=) Parent #1 - benign g.1381176A>C g.1477882A>C - - MYO1C_000011 227 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2286877 Germline - 227/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 227 Mohammed Faruq
-/. - c.1482+9T>G r.(=) p.(=) Both (homozygous) - benign g.1381176A>C g.1477882A>C - - MYO1C_000011 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2286877 Germline - 3/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.1594C>T r.(?) p.(Arg532Trp) Unknown - likely benign g.1378307G>A - MYO1C(NM_001080779.1):c.1594C>T (p.(Arg532Trp)) - MYO1C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1716+4A>G r.spl? p.? Unknown - likely benign g.1378102T>C g.1474808T>C MYO1C(NM_001080779.2):c.1716+4A>G - MYO1C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2282-5G>A r.spl? p.? Unknown - likely benign g.1373818C>T - MYO1C(NM_001080779.2):c.2282-5G>A - MYO1C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2401C>G r.(?) p.(Arg801Gly) Unknown - VUS g.1373594G>C - MYO1C(NM_001080779.1):c.2401C>G (p.(Arg801Gly)) - MYO1C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2437C>T r.(?) p.(Arg813Cys) Unknown - VUS g.1373558G>A g.1470264G>A MYO1C(NM_001080779.1):c.2437C>T (p.(Arg813Cys)) - MYO1C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2438G>C r.(?) p.(Arg813Pro) Unknown - VUS g.1373557C>G - MYO1C(NM_001080779.1):c.2438G>C (p.(Arg813Pro)) - MYO1C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2574A>C r.(?) p.(Lys858Asn) Parent #1 - likely benign g.1372861T>G g.1469567T>G - - MYO1C_000010 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61753652 Germline - 10/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
-/. - c.2785G>A r.(?) p.(Asp929Asn) Parent #1 - benign g.1371393C>T g.1468099C>T - - MYO1C_000009 66 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11538161 Germline - 66/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 66 Mohammed Faruq
-/. - c.2785G>A r.(?) p.(Asp929Asn) Both (homozygous) - benign g.1371393C>T g.1468099C>T - - MYO1C_000009 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11538161 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.2802G>A r.(=) p.(=) Parent #1 - likely benign g.1371376C>T g.1468082C>T - - MYO1C_000008 60 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45598333 Germline - 60/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 60 Mohammed Faruq
-?/. - c.2951C>T r.(?) p.(Ala984Val) Unknown - likely benign g.1371150G>A - MYO1C(NM_001080779.1):c.2951C>T (p.(Ala984Val)) - MYO1C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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