chr2:214980608:C>T Detail (hg38) (ABCA12)

Information

Genome

Assembly Position
hg19 chr2:215,845,332-215,845,332 View the variant detail on this assembly version.
hg38 chr2:214,980,608-214,980,608

HGVS

Type Transcript Protein
RefSeq NM_173076.2:c.4615G>A NP_775099.2:p.Glu1539Lys
NR_103740.1:c.4615G>A
NM_015657.3:c.3661G>A NP_056472.2:p.Glu1221Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 607800 OMIM
HGNC 14637 HGNC
Ensembl ENSG00000144452 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv190334097 TogoVar
COSMIC COSM6589436 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-09-15 no assertion criteria provided autosomal recessive congenital ichthyosis 4A germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.361 Lamellar ichthyosis, type 2 Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type... UNIPROT 12915478 Detail
0.361 Lamellar ichthyosis, type 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_173076.3(ABCA12):c.4615G>A (p.Glu1539Lys) AND Autosomal recessive congenital ichthyosis 4A ClinVar Detail
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. DisGeNET Detail
NA DisGeNET 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
rs28940271 dbSNP
Genome
hg38
Position
chr2:214,980,608-214,980,608
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser