Full data view for gene CHRND

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000751.2 transcript reference sequence.

165 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.-4888G>A r.(?) p.(=) Unknown - likely benign g.233386038G>A - PRSS56(NM_001195129.1):c.105G>A (p.S35=) - CHRND_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4829G>A r.(?) p.(=) Unknown - VUS g.233386097G>A - PRSS56(NM_001195129.2):c.164G>A (p.(Arg55Gln)) - CHRND_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4822G>A r.(?) p.(=) Unknown - likely benign g.233386104G>A - PRSS56(NM_001195129.1):c.171G>A (p.A57=) - CHRND_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4395G>C r.(?) p.(=) Unknown - benign g.233386531G>C g.232521821G>C PRSS56(NM_001195129.1):c.211G>C (p.G71R) - CHRND_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4343T>C r.(?) p.(=) Unknown - benign g.233386583T>C g.232521873T>C PRSS56(NM_001195129.2):c.256+7T>C - PRSS56_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4088C>T r.(?) p.(=) Unknown - likely benign g.233386838C>T g.232522128C>T PRSS56(NM_001195129.1):c.414C>T (p.S138=) - CHRND_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3692T>G r.(?) p.(=) Unknown - VUS g.233387234T>G - PRSS56(NM_001195129.1):c.456T>G (p.N152K) - CHRND_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-3683del r.(?) p.(=) Unknown - likely pathogenic g.233387243del - PRSS56(NM_001195129.2):c.465delG (p.W156Gfs*3) - CHRND_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3680G>T r.(?) p.(=) Unknown - VUS g.233387246G>T - - - CHRND_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3163C>T r.(?) p.(=) Unknown - likely benign g.233387763C>T - PRSS56(NM_001195129.2):c.707-7C>T - CHRND_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3119T>C r.(?) p.(=) Unknown - likely benign g.233387807T>C g.232523097T>C PRSS56(NM_001195129.1):c.744T>C (p.V248=) - CHRND_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3103G>A r.(?) p.(=) Unknown - likely benign g.233387823G>A g.232523113G>A PRSS56(NM_001195129.1):c.760G>A (p.D254N, p.(Asp254Asn)) - PRSS56_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3103G>A r.(?) p.(=) Unknown - VUS g.233387823G>A - PRSS56(NM_001195129.1):c.760G>A (p.D254N, p.(Asp254Asn)) - PRSS56_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3097T>C r.(?) p.(=) Unknown - VUS g.233387829T>C - PRSS56(NM_001369848.1):c.766T>C (p.C256R) - CHRND_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3093G>A r.(?) p.(=) Unknown - likely benign g.233387833G>A - PRSS56(NM_001195129.1):c.770G>A (p.R257Q) - CHRND_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2746G>T r.(?) p.(=) Unknown - VUS g.233388180G>T g.232523470G>T PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe)) - CHRND_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-2746G>T r.(?) p.(=) Unknown - likely pathogenic g.233388180G>T - PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe)) - CHRND_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2746G>T r.(?) p.(=) Unknown - VUS g.233388180G>T - PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe)) - CHRND_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2393C>T r.(?) p.(=) Unknown - likely benign g.233388533C>T g.232523823C>T PRSS56(NM_001195129.1):c.1064C>T (p.(Pro355Leu)) - CHRND_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2391C>A r.(?) p.(=) Unknown - likely benign g.233388535C>A - PRSS56(NM_001195129.1):c.1066C>A (p.Q356K), PRSS56(NM_001195129.2):c.1066C>A (p.(Gln356Lys)) - CHRND_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2391C>A r.(?) p.(=) Unknown - VUS g.233388535C>A - PRSS56(NM_001195129.1):c.1066C>A (p.Q356K), PRSS56(NM_001195129.2):c.1066C>A (p.(Gln356Lys)) - CHRND_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2386G>T r.(?) p.(=) Unknown - likely benign g.233388540G>T g.232523830G>T PRSS56(NM_001195129.1):c.1071G>T (p.(Glu357Asp)) - CHRND_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2369C>T r.(?) p.(=) Unknown - likely benign g.233388557C>T g.232523847C>T PRSS56(NM_001195129.1):c.1088C>T (p.A363V) - CHRND_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2366G>A r.(?) p.(=) Unknown - likely benign g.233388560G>A g.232523850G>A PRSS56(NM_001195129.1):c.1091G>A (p.R364Q) - PRSS56_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2113T>G r.(?) p.(=) Unknown - benign g.233388813T>G g.232524103T>G PRSS56(NM_001195129.2):c.1251T>G (p.P417=) - CHRND_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2102T>G r.(?) p.(=) Unknown - VUS g.233388824T>G g.232524114T>G PRSS56(NM_001195129.1):c.1262T>G (p.L421R) - PRSS56_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1881G>A r.(?) p.(=) Unknown - likely benign g.233389045G>A - PRSS56(NM_001195129.1):c.1380G>A (p.P460=) - CHRND_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1861G>T r.(?) p.(=) Unknown - VUS g.233389065G>T g.232524355G>T PRSS56(NM_001195129.1):c.1400G>T (p.R467L) - PRSS56_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1861G>T r.(?) p.(=) Unknown - likely benign g.233389065G>T - PRSS56(NM_001195129.1):c.1400G>T (p.R467L) - PRSS56_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1844A>T r.(?) p.(=) Unknown - VUS g.233389082A>T - PRSS56(NM_001369848.1):c.1417+3A>T - CHRND_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1474C>T r.(?) p.(=) Unknown - benign g.233389452C>T g.232524742C>T PRSS56(NM_001195129.1):c.1419C>T (p.C473=) - CHRND_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1008A>G r.(?) p.(=) Unknown - benign g.233389918A>G g.232525208A>G PRSS56(NM_001195129.2):c.1522-8A>G - PRSS56_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-829G>T r.(?) p.(=) Unknown - VUS g.233390097G>T g.232525387G>T PRSS56(NM_001195129.1):c.1693G>T (p.A565S) - CHRND_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-755G>A r.(?) p.(=) Unknown - likely benign g.233390171G>A - PRSS56(NM_001195129.1):c.1767G>A (p.G589=) - CHRND_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-727C>G r.(?) p.(=) Unknown - likely benign g.233390199C>G g.232525489C>G PRSS56(NM_001195129.1):c.1795C>G (p.(Pro599Ala)) - CHRND_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.? - p.Glu397Lys Unknown - NA g.? - E376K - CHRND_000000 expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN slightly reduced cluster formation PubMed: Muller 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.? - p.Asn457del Unknown - NA g.? - N436del - CHRND_000000 expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN slightly reduced cluster formation PubMed: Muller 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.? - p.Glu406Lys Unknown - NA g.? - E385K - CHRND_000000 expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN slightly reduced cluster formation PubMed: Muller 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.? - p.Lys403Glu Unknown - NA g.? - K382E - CHRND_000000 expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN slightly reduced cluster formation PubMed: Muller 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.? - p.Glu402Leu Unknown - NA g.? - E381L - CHRND_000000 expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN severely reduced cluster formation PubMed: Muller 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.? - p.Phe401Ala Unknown - NA g.? - F380A - CHRND_000000 expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN severely reduced cluster formation PubMed: Muller 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.? - p.Met400Ala Unknown - NA g.? - M379A - CHRND_000000 expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN severely reduced cluster formation PubMed: Muller 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.? - p.Asn398Lys Unknown - NA g.? - D377K - CHRND_000000 expression cloning in mouse cDNA HEK293 cells, co-transfected RPASN severely reduced cluster formation PubMed: Muller 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11C>T r.(?) p.(Pro4Leu) Unknown - VUS g.233390936C>T - CHRND(NM_000751.3):c.11C>T (p.(Pro4Leu)) - CHRND_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.12A>G r.(?) p.(=) Unknown - benign g.233390937A>G g.232526227A>G A-52G (P-18P) - CHRND_000017 - PubMed: Sine 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS FamPat1 PubMed: Sine 1995 3-generation family, 5 affected (2F, 3M) F;M - Germany - - - - - 5 Johan den Dunnen
-/. 1 c.12A>G r.= p.= Unknown - benign g.233390937A>G g.232526227A>G A-52G - CHRND_000017 - PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl/mother/grandmother F - United States - >30y - - - 3 Johan den Dunnen
-/. 1 c.12A>G r.= p.= Paternal (inferred) - benign g.233390937A>G g.232526227A>G A-52G - CHRND_000017 - PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 2-generation family, affected boy M - United States - >16y - - - 1 Johan den Dunnen
-/. 1 c.12A>G r.= p.= Maternal (inferred) - benign g.233390937A>G g.232526227A>G A-52G - CHRND_000017 - PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 2-generation family, affected boy M - United States - >16y - - - 1 Johan den Dunnen
-/. 1 c.12A>G r.(?) p.(=) Unknown - benign g.233390937A>G g.232526227A>G A-52G - CHRND_000017 - PubMed: Engel 1996 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 2-generation family, 2 affected brothers M - - - - - - - 2 Johan den Dunnen
-/. 1 c.12A>G r.(?) p.(=) Paternal (confirmed) - benign g.233390937A>G g.232526227A>G -52A/G - CHRND_000017 - PubMed: Ohno 1999 - - Germline - - MspI- - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y - - - 1 Johan den Dunnen
-/. 1 c.12A>G r.(?) p.(=) Maternal (confirmed) - benign g.233390937A>G g.232526227A>G -52A/G - CHRND_000017 - PubMed: Ohno 1999 - - Germline - - MspI- - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y - - - 1 Johan den Dunnen
-/. 1 c.12A>G r.(?) p.(=) Paternal (confirmed) - benign g.233390937A>G g.232526227A>G -52A/G - CHRND_000017 - PubMed: Ohno 1999 - - Germline - - MspI- - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y - - - 1 Johan den Dunnen
-/. 1 c.12A>G r.(?) p.(=) Maternal (confirmed) - benign g.233390937A>G g.232526227A>G -52A/G - CHRND_000017 - PubMed: Ohno 1999 - - Germline - - MspI- - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y - - - 1 Johan den Dunnen
-/. 1 c.12A>G r.(?) p.(=) Maternal (confirmed) - benign g.233390937A>G g.232526227A>G -52A/G - CHRND_000017 - PubMed: Ohno 1999 - - Germline - - MspI- - - DNA SEQ - - - - PubMed: Ohno 1999 unaffected carrier parents and brother - - Turkey - - - - - 3 Johan den Dunnen
-/. 1 c.12A>G r.(?) p.(=) Unknown - benign g.233390937A>G g.232526227A>G A-52G (P-18P) - CHRND_000017 - PubMed: Sine 1995 - - Germline - - - - - DNA SEQ, SSCA - - CMS - PubMed: Sine 1995 - - - Germany - - - - - 1 Johan den Dunnen
-/. 1 c.12A>G r.= p.= Paternal (inferred) - benign g.233390937A>G g.232526227A>G A-52G - CHRND_000017 - PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl F - United States - >19y - - - 1 Johan den Dunnen
-/. 1 c.12A>G r.= p.= Maternal (inferred) - benign g.233390937A>G g.232526227A>G A-52G - CHRND_000017 - PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl F - United States - >19y - - - 1 Johan den Dunnen
-/. 1 c.12A>G r.(?) p.(=) Unknown - benign g.233390937A>G g.232526227A>G A-52G - CHRND_000017 control chromosomes PubMed: Engel 1996 - - Germline - 30/60 - - - DNA SEQ - - - - PubMed: Engel 1996 - - - - - - - - - 30 Johan den Dunnen
-/. 1 c.12A>G r.(?) p.(=) Unknown - benign g.233390937A>G g.232526227A>G -52A/G - CHRND_000017 control chromosomes, reported 32/64 in 1997 PubMed: Ohno 1997, PubMed: Ohno 1999 - - Germline - 54/112 MspI- - - DNA SEQ - - - - PubMed: Ohno 1997, PubMed: Ohno 1999 - - - Turkey - - - - - 54 Johan den Dunnen
?/. - c.70G>A r.(?) p.(Glu24Lys) Parent #1 ACMG VUS g.233391256G>A g.232526546G>A - - CHRND_000029 ACMG grading: PM2 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat205 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
-/. - c.117C>G r.(?) p.(Asn39Lys) Parent #1 - benign g.233391303C>G g.232526593C>G - - CHRND_000027 Polyphen-2: benign - - rs77084550 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.117C>G r.(?) p.(Asn39Lys) Unknown - benign g.233391303C>G g.232526593C>G CHRND(NM_000751.2):c.117C>G (p.N39K, p.(Asn39Lys)) - CHRND_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117C>G r.(?) p.(Asn39Lys) Unknown - benign g.233391303C>G - CHRND(NM_000751.2):c.117C>G (p.N39K, p.(Asn39Lys)) - CHRND_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.120G>A r.(?) p.(=) Paternal (inferred) - benign g.233391306G>A g.232526596G>A G57A - CHRND_000019 - PubMed: Ohno 1997 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - - - - 2 Johan den Dunnen
-/. 2 c.120G>A r.(?) p.(=) Maternal (inferred) - benign g.233391306G>A g.232526596G>A G57A - CHRND_000019 - PubMed: Ohno 1997 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - - - - 2 Johan den Dunnen
-/. - c.120G>A r.(?) p.(Lys40=) Unknown - benign g.233391306G>A - CHRND(NM_000751.2):c.120G>A (p.(Lys40=)) - CHRND_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.188T>C r.(?) p.Leu63Pro Unknown - NA g.233391374T>C g.232526664T>C L42P - CHRND_000009 expression cloning human cDNA in HEK293; expression reduced to 0.37 PubMed: Shen 2008, OMIM:var0008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.188T>C r.(?) p.(Leu63Pro) Maternal (confirmed) - pathogenic g.233391374T>C g.232526664T>C 125T>C (L42P) - CHRND_000009 not in 200 control chromosomes PubMed: Shen 2008, OMIM:var0008 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shen 2008 similarly affected sibling died 11m F - United States - >20y - - - 1 Johan den Dunnen
+?/. - c.188T>C r.(?) p.(Leu63Pro) Parent #1 - likely pathogenic g.233391374T>C g.232526664T>C - - CHRND_000009 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P167 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
?/. - c.199-68_199-67del r.(=) p.(=) Parent #1 - VUS g.233392043_233392044del g.232527333_232527334del - - CHRND_000021 polymorphic region - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.226A>G r.(?) p.(Asn76Asp) Unknown - likely benign g.233392138A>G - - - CHRND_000087 - - - rs200755491 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.234G>A r.(?) p.(Trp78*) Paternal (inferred) - pathogenic g.233392146G>A g.232527436G>A W57* - CHRND_000007 not in control 300 chromosomes PubMed: Michalk 2008, OMIM:var0005 - - Germline - - - - - DNA SEQ - - FADS - PubMed: Michalk 2008 5-generation family, 2 affecteds - - Turkey - - - - - 2 Johan den Dunnen
+/. 3 c.234G>A r.(?) p.(Trp78*) Maternal (inferred) - pathogenic g.233392146G>A g.232527436G>A W57* - CHRND_000007 not in control 300 chromosomes PubMed: Michalk 2008, OMIM:var0005 - - Germline - - - - - DNA SEQ - - FADS - PubMed: Michalk 2008 5-generation family, 2 affecteds - - Turkey - - - - - 2 Johan den Dunnen
+/. 3 c.234G>A r.(?) p.(Trp78*) Parent #1 - pathogenic g.233392146G>A g.232527436G>A - - CHRND_000007 not in 300 control chromosomes PubMed: Michalk 2008 - - Germline - - - - - DNA SEQ - - - - PubMed: Michalk 2008 5-generation family, unaffected carrier parents - yes Turkey - - - - - 2 Johan den Dunnen
+/. 3 c.236T>A r.(?) p.Ile79Lys Unknown - NA g.233392148T>A g.232527438T>A I58K - CHRND_000010 expression cloning human cDNA in HEK293; expression reduced to 0.05, complex formation reduced to 0.15 PubMed: Shen 2008, OMIM:var0009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.236T>A r.(?) p.(Ile79Lys) Paternal (confirmed) - pathogenic g.233392148T>A g.232527438T>A 173T>A (I58K) - CHRND_000010 not in 200 control chromosomes PubMed: Shen 2008, OMIM:var0009 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shen 2008 similarly affected sibling died 11m F - United States - >20y - - - 1 Johan den Dunnen
+/. 3 c.238G>A r.(?) p.Glu80Lys Unknown - NA g.233392150G>A g.232527440G>A E59K - CHRND_000002 expression cloning in HEK293 cells shorter than normal channel activations PubMed: Brownlow 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.238G>A r.(?) p.(Glu80Lys) Maternal (confirmed) - pathogenic g.233392150G>A g.232527440G>A 175G>A (E59K) - CHRND_000002 - PubMed: Brownlow 2001, OMIM:var0003 - - Germline - - BsiHKAI+ - - DNA SEQ, SSCA - - CMS - PubMed: Brownlow 2001 2-generation family, unaffected carrier parents F - United Kingdom (Great Britain) - >6y - - - 1 Johan den Dunnen
-/. - c.243C>T r.(=) p.(=) Parent #1 - benign g.233392155C>T g.232527445C>T - - CHRND_000022 - - - rs115841867 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.267G>C r.(?) p.(Lys89Asn) Unknown - likely benign g.233392995G>C - CHRND(NM_000751.2):c.267G>C (p.(Lys89Asn)) - CHRND_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.283T>C r.(?) p.(Phe95Leu) Parent #2 - pathogenic g.233393011T>C g.232528301T>C F74L - CHRND_000008 not in control 300 chromosomes PubMed: Michalk 2008, OMIM:var0006 - - Germline - - - - - DNA SEQ - - FADS - PubMed: Michalk 2008 2-generation family, 4 affecteds - - Germany - - - - - 4 Johan den Dunnen
+/. 4 c.283T>C r.(?) p.(Phe95Leu) Parent #1 - pathogenic g.233393011T>C g.232528301T>C F74L - CHRND_000008 not in control 300 chromosomes PubMed: Michalk 2008, OMIM:var0006 - - Germline - - - - - DNA SEQ - - - - PubMed: Michalk 2008, OMIM:var0006 2-generation family, unaffected carrier parent - - Germany - - - - - 1 Johan den Dunnen
+/. 4 c.340G>C r.(?) p.Val114Leu Unknown - NA g.233393068G>C g.232528358G>C V93L - CHRND_000012 expression cloning human cDNA in HEK293; expression slightly enhanced - - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.340G>C r.(?) p.(Val114Leu) Paternal (confirmed) - pathogenic g.233393068G>C g.232528358G>C 277G>C (V93L) - CHRND_000012 not in 200 control chromosomes - - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shen 2008 similarly affected sibling died 11m F - United States - >20y - - - 1 Johan den Dunnen
+?/. - c.340G>C r.(?) p.(Val114Leu) Parent #2 - likely pathogenic g.233393068G>C g.232528358G>C - - CHRND_000012 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P167 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
-?/. - c.380A>G r.(?) p.(Tyr127Cys) Unknown - likely benign g.233393237A>G - CHRND(NM_000751.2):c.380A>G (p.(Tyr127Cys)) - CHRND_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.442C>T r.(?) p.(Arg148Cys) Parent #1 - VUS g.233393299C>T g.232528589C>T - - CHRND_000023 PolyPhen-2: benign (PSIC 0,019); splice: loss of SF2/ASF-site-->new SRp40-site; MutTaster: disease causing - - - Germline - - - - - DNA SEQ - - MEOAL;MMDS8 - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.539C>A r.(?) p.(Thr180Asn) Unknown - VUS g.233393601C>A - CHRND(NM_000751.3):c.539C>A (p.(Thr180Asn)) - CHRND_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646C>T r.(?) p.(Arg216Trp) Unknown - likely benign g.233394675C>T - CHRND(NM_000751.2):c.646C>T (p.(Arg216Trp)) - CHRND_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.727C>T r.(?) p.(Arg243Cys) Unknown - likely pathogenic g.233394756C>T g.232530046C>T - - CHRND_000064 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
?/. - c.730del r.(?) p.(Arg244Alafs*82) Unknown - VUS g.233394759del - CHRND(NM_000751.3):c.730del (p.(Arg244Alafs*82)) - CHRND_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.761T>A r.(?) p.(Leu254Gln) Unknown - VUS g.233394790T>A g.232530080T>A - - CHRND_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.769T>C r.(?) p.(Cys257Arg) Parent #1 - pathogenic (recessive) g.233394798T>C g.232530088T>C - - CHRND_000033 - PubMed: Todd 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Fam10 PubMed: Todd 2015 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.812C>A r.(?) p.Pro271Gln Unknown - NA g.233394841C>A g.232530131C>A P250Q - CHRND_000011 expression cloning human CHRND cDNA in HEK293 cells shows reduced AChR assembly, hinders opening doubly occupied closed receptor, speeded dissociation acetylcholine from A2R (fast channel effects) PubMed: Shen 2002, OMIM:var0002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.812C>A r.(?) p.(Pro271Gln) Parent #1 - pathogenic g.233394841C>A g.232530131C>A 749C>A (P250Q) - CHRND_000011 not in 200 control chromosomes PubMed: Shen 2002, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shen 2002 4-generation family, unaffected carrier parents/3 siblings M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 7 c.812C>A r.(?) p.(Pro271Gln) Parent #2 - pathogenic g.233394841C>A g.232530131C>A 749C>A (P250Q) - CHRND_000011 not in 200 control chromosomes PubMed: Shen 2002, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shen 2002 4-generation family, unaffected carrier parents/3 siblings M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 7 c.812C>A r.(?) p.(Pro271Gln) Parent #1 - pathogenic g.233394841C>A g.232530131C>A 749C>A (P250Q) - CHRND_000011 not in 200 control chromosomes PubMed: Shen 2002, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shen 2002 2 cousins 3-generation family, unaffected carrier parents/4 siblings M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 7 c.812C>A r.(?) p.(Pro271Gln) Parent #2 - pathogenic g.233394841C>A g.232530131C>A 749C>A (P250Q) - CHRND_000011 not in 200 control chromosomes PubMed: Shen 2002, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shen 2002 2 cousins 3-generation family, unaffected carrier parents/4 siblings M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 7 c.812C>A r.(?) p.(Pro271Gln) Parent #1 - pathogenic g.233394841C>A g.232530131C>A 749C>A (P250Q) - CHRND_000011 not in 200 control chromosomes PubMed: Shen 2002, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shen 2002 2 cousins 3-generation family, unaffected carrier parents/4 siblings F - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 7 c.812C>A r.(?) p.(Pro271Gln) Parent #2 - pathogenic g.233394841C>A g.232530131C>A 749C>A (P250Q) - CHRND_000011 not in 200 control chromosomes PubMed: Shen 2002, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Shen 2002 2 cousins 3-generation family, unaffected carrier parents/4 siblings F - Saudi Arabia - - - - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.