chr11:44234131:A>G Detail (hg38) (EXT2)

Information

Genome

Assembly Position
hg19 chr11:44,255,681-44,255,681 View the variant detail on this assembly version.
hg38 chr11:44,234,131-44,234,131

HGVS

Type Transcript Protein
RefSeq NM_001178083.1:c.1853A>G NP_001171554.1:p.Tyr618Cys
NM_000401.3:c.1823A>G NP_000392.3:p.Tyr608Cys
NM_207122.1:c.1823A>G NP_997005.1:p.Tyr608Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 608210 OMIM
HGNC 3513 HGNC
Ensembl ENSG00000151348 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB 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 2019-08-02 no assertion criteria provided Seizures-scoliosis-macrocephaly syndrome germline Detail
Likely pathogenic 2023-03-23 criteria provided, single submitter Exostoses, multiple, type 2 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys) AND Seizures-scoliosis-macrocephaly syndrome ClinVar Detail
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys) AND Exostoses, multiple, type 2 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
-
dbSNP
rs1590667793 dbSNP
Genome
hg38
Position
chr11:44,234,131-44,234,131
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser