chr1:21561130:T>C Detail (hg38) (ALPL)

Information

Genome

Assembly Position
hg19 chr1:21,887,623-21,887,623 View the variant detail on this assembly version.
hg38 chr1:21,561,130-21,561,130

HGVS

Type Transcript Protein
RefSeq NM_000478.5:c.215T>C NP_000469.3:p.Ile72Thr
NM_001177520.2:c.66+385T>C
NM_001127501.3:c.50T>C NP_001120973.2:p.Ile17Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 171760 OMIM
HGNC 438 HGNC
Ensembl ENSG00000162551 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
Likely pathogenic 2014-08-21 criteria provided, single submitter infantile hypophosphatasia unknown Detail
Pathogenic 2023-06-04 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2022-02-14 criteria provided, single submitter adult hypophosphatasia unknown Detail
Pathogenic 2023-12-18 criteria provided, single submitter ALPL-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.566 infantile hypophosphatasia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) AND Infantile hypophosphatasia ClinVar Detail
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) AND not provided ClinVar Detail
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) AND Adult hypophosphatasia ClinVar Detail
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) AND ALPL-related disorder ClinVar 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
rs781264043 dbSNP
Genome
hg38
Position
chr1:21,561,130-21,561,130
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
7664
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
101302
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.871473416122091E-6
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