GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1 Detail (hg19) (FGF9, GJA3, GJB2, ZMYM2, IFT88, ZMYM5, SAP18, GJB6, LATS2, CRYL1, IL17D, XPO4, MRPL57, EEF1AKMT1, SKA3, MICU2, ZDHHC20, MIR4499, LINC00539, LINC00424, LOC101928764, LINC00367, LINC01046, LINC01072, LOC112163647, LOC121466728, LOC124849292, LOC126861703, LOC126861704, LOC126861705, LOC130009300, LOC130009301, LOC130009302, LOC130009303, LOC130009304, LOC130009305, LOC130009306, LOC130009307, LOC130009308, LOC130009309, LOC130009310, LOC130009311, LOC130009312, LOC130009313, LOC130009314, LOC130009315, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC130009325, LOC130009326, LOC130009327, LOC130009328, LOC130009329, LOC130009330, LOC130009331, LOC130009332, LOC130009333, LOC130009334, LOC130009335, LOC130009336, LOC130009337, LOC130009338, LOC130009339, LOC130009340, LOC130009341, LOC130009342, LOC130009343, LOC130009344, LOC130009345, LOC130009346, LOC130009347, LOC130009348, LOC130009349, LOC130009350, LOC130009351, LOC130009352, LOC130009353, LOC130009354, LOC132090175)

Information

Genome

Assembly Position
hg19 chr13:20,411,535-22,541,928
hg38 chr13:19,837,395-21,967,789 View the variant detail on this assembly version.
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC
Ensembl
NCBI
Gene Cards
OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2010-12-22 no assertion criteria provided not provided Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1 AND See cases ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr13:20,411,535-22,541,928
Variant Type
cnv
Genome browser