GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1 Detail (hg19) (ATP2A1, CD19, CLN3, SULT1A2, SULT1A1, TUFM, EIF3C, ATXN2L, SH2B1, NUPR1, LAT, APOBR, RABEP2, SPNS1, NFATC2IP, SGF29, IL27, EIF3CL, NPIPB6)

Information

Genome

Assembly Position
hg19 chr16:28,371,467-29,379,768
hg38 chr16:28,360,146-29,368,447 
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance Pathogenic
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
Pathogenic criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1 AND not specified 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
chr16:28,371,467-29,379,768
Variant Type
cnv
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