Full data view for gene FAM83H

Information The variants shown are described using the NM_198488.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.557C>T r.(?) p.(Ala186Val) Unknown - VUS g.144811384G>A g.143729214G>A FAM83H(NM_198488.3):c.557C>T (p.A186V) - FAM83H_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.601C>T r.(?) p.(Gln201*) Parent #1 - VUS g.144811340G>A g.143729170G>A - - FAM83H_000022 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs189033490 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-/. - c.603= r.(=) p.(His201=) Unknown - benign g.144811338C>G g.143729168C>G FAM83H(NM_198488.5):c.603G>C (p.Q201H) - FAM83H_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.613-17C>T r.(=) p.(=) Unknown - benign g.144811278G>A g.143729108G>A FAM83H(NM_198488.5):c.613-17C>T - FAM83H_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1047C>T r.(?) p.(His349=) Unknown - likely benign g.144810584G>A g.143728414G>A FAM83H(NM_198488.3):c.1047C>T (p.H349=) - FAM83H_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1282C>T r.(?) p.(Gln428Ter) Paternal (confirmed) - pathogenic (dominant) g.144810349G>A g.143728179G>A - - FAM83H_000026 - PubMed: Prasad 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - disease gene panel AI V2.26 PubMed: Prasad 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1289C>A r.(?) p.(Ser430Ter) Unknown - pathogenic (dominant) g.144810342G>T g.143728172G>T - - FAM83H_000025 - PubMed: Prasad 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - disease gene panel AI V2.20 PubMed: Prasad 2016 - F - - - - - - - 1 Johan den Dunnen
-/. - c.1493C>T r.(?) p.(Pro498Leu) Unknown - benign g.144810138G>A g.143727968G>A FAM83H(NM_198488.3):c.1493C>T (p.P498L) - FAM83H_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1530C>T r.(?) p.(Tyr510=) Unknown - likely benign g.144810101G>A g.143727931G>A FAM83H(NM_198488.3):c.1530C>T (p.Y510=) - FAM83H_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1669G>T r.(?) p.(Gly557Cys) Unknown - likely benign g.144809962C>A g.143727792C>A FAM83H(NM_198488.3):c.1669G>T (p.G557C) - FAM83H_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1827C>T r.(?) p.(Tyr609=) Unknown - benign g.144809804G>A g.143727634G>A FAM83H(NM_198488.3):c.1827C>T (p.Y609=), FAM83H(NM_198488.5):c.1827C>T (p.Y609=) - FAM83H_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1827C>T r.(?) p.(Tyr609=) Unknown - benign g.144809804G>A g.143727634G>A FAM83H(NM_198488.3):c.1827C>T (p.Y609=), FAM83H(NM_198488.5):c.1827C>T (p.Y609=) - FAM83H_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2029C>T r.(?) p.(Gln677Ter) Unknown - pathogenic (dominant) g.144809602G>A g.143727432G>A - - FAM83H_000024 - PubMed: Prasad 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - disease gene panel AI V2.63 PubMed: Prasad 2016 - M - - - - - - - 1 Johan den Dunnen
?/. - c.2131A>G r.(?) p.(Lys711Glu) Unknown - VUS g.144809500T>C g.143727330T>C FAM83H(NM_198488.3):c.2131A>G (p.K711E) - FAM83H_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2618C>A r.(?) p.(Ser873Ter) Unknown - VUS g.144809013G>T g.143726843G>T - - FAM83H_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2703G>A r.(?) p.(Lys901=) Unknown - likely benign g.144808928C>T g.143726758C>T FAM83H(NM_198488.3):c.2703G>A (p.K901=) - FAM83H_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2705G>A r.(?) p.(Gly902Glu) Unknown - benign g.144808926C>T g.143726756C>T FAM83H(NM_198488.3):c.2705G>A (p.G902E) - FAM83H_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2868C>T r.(?) p.(Ser956=) Unknown - likely benign g.144808763G>A g.143726593G>A FAM83H(NM_198488.3):c.2868C>T (p.S956=) - FAM83H_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2884C>T r.(?) p.(Leu962=) Unknown - benign g.144808747G>A g.143726577G>A FAM83H(NM_198488.3):c.2884C>T (p.L962=), FAM83H(NM_198488.5):c.2884C>T (p.L962=) - FAM83H_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2884C>T r.(?) p.(Leu962=) Unknown - benign g.144808747G>A g.143726577G>A FAM83H(NM_198488.3):c.2884C>T (p.L962=), FAM83H(NM_198488.5):c.2884C>T (p.L962=) - FAM83H_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3059G>A r.(?) p.(Arg1020Gln) Parent #1 - benign g.144808572C>T g.143726402C>T - - FAM83H_000021 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117987215 Germline - 5/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.3140T>A r.(?) p.(Ile1047Asn) Unknown - VUS g.144808491A>T g.143726321A>T FAM83H(NM_198488.5):c.3140T>A (p.I1047N) - FAM83H_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1081T>C - p.(=) Both (homozygous) - VUS g.144807010A>G g.143724840A>G - - FAM83H_000001 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.*4869C>T r.(=) p.(=) Unknown - likely benign g.144803222G>A g.143721052G>A MAPK15(NM_139021.3):c.970G>A (p.A324T) - FAM83H_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4903G>A r.(=) p.(=) Unknown - likely benign g.144803188C>T g.143721018C>T MAPK15(NM_139021.3):c.936C>T (p.D312=) - FAM83H_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6558A>G r.(=) p.(=) Unknown - VUS g.144801533T>C g.143719363T>C MAPK15(NM_139021.3):c.602T>C (p.M201T) - FAM83H_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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