GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1 Detail (hg19) (ACTN3, BBS1, SLC29A2, RBM4, SPTBN2, CTSF, RIN1, CCS, DPP3, RBM14, YIF1A, B4GAT1, BRMS1, CCDC87, PACS1, CD248, KLC2, MRPL11, TOP6BL, RAB1B, RBM4B, PELI3, CNIH2, ZDHHC24, TMEM151A, NPAS4, RBM14-RBM4)

Information

Genome

Assembly Position
hg19 chr11:65,963,737-66,581,485
hg38 chr11:66,196,266-66,814,014 
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 2021-05-01 no assertion criteria provided not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1 AND not provided 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
chr11:65,963,737-66,581,485
Variant Type
cnv
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