Full data view for gene PANK2

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_024960.4 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Variant_disease     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ - - c.-246+729C>A p.(=) - - - - Unknown subst g.3870280C>A - 1.850 - PANK2_000008 MSCV_0002945 rs137852969 - ; clinvar; 16240131 - - - - - - - - - - - - - - - - - - - -
+/+ - - c.-246+766C>G p.(=) - - - - Unknown subst g.3870317C>G - 2.610 - PANK2_000001 MSCV_0002946 rs137852960 - ; clinvar; 11479594 - - - - - - - - - - - - - - - - - - - -
+/+ - - c.-84C>T p.(=) - - - - Unknown subst g.3888734C>T - 3.660 - PANK2_000002 MSCV_0002947 rs137852961 - ; clinvar; 11479594 - - - - - - - - - - - - - - - - - - - -
+/+ - - c.-18C>T p.(=) - - - - Unknown subst g.3888800C>T - 3.660 - PANK2_000003 MSCV_0002948 rs137852962 - ; clinvar; 11479594 - - - - - - - - - - - - - - - - - - - -
+/+ - 4/7 c.539G>A p.(Ser180Asn) probably_damaging(0.952) missense_variant,splice_region_variant - deleterious(0) Unknown subst g.3893281G>A - 4.930 - PANK2_000004 MSCV_0002949 rs137852963 - ; clinvar; 11479594 - - - - - - - - - - - - - - - - - - - -
+/+ - 6/7 c.688G>A p.(Gly230Arg) probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.3899342G>A - 5.120 - PANK2_000005 MSCV_0002950 rs137852959 - ; clinvar; 11479594 - - - - - - - - - - - - - - - - - - - -
+/+ - 6/7 c.710C>T p.(Thr237Met) benign(0.323) missense_variant - tolerated(0.28) Unknown subst g.3899364C>T - 3.160 - PANK2_000006 MSCV_0002951 rs137852967 - ; clinvar; 11479594;12510040 - - - - - - - - - - - - - - - - - - - -
?/? - 7/7 c.836C>T p.(Pro279Leu) benign(0.368) missense_variant - deleterious(0) Unknown subst g.3903937C>T - 5.050 - PANK2_000007 MSCV_0002952 rs41279408 - ; - - - - - - - - - - - - - - - - - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium