chr1:94030483:C>T Detail (hg38) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,496,039-94,496,039 View the variant detail on this assembly version.
hg38 chr1:94,030,483-94,030,483

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.4297G>A NP_000341.2:p.Val1433Ile
Ensemble ENST00000370225.4:c.4297G>A ENST00000370225.4:p.Val1433Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.002
ToMMo:0.002
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.002

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 601691 OMIM
HGNC 34 HGNC
Ensembl ENSG00000198691 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv2421420 TogoVar
COSMIC COSM1344994 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-31 criteria provided, conflicting interpretations not provided germline not provided unknown Detail
no classifications from unflagged records 2023-07-23 no classifications from unflagged records Severe early-childhood-onset retinal dystrophy germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter ABCA4-related disorder germline Detail
Uncertain significance 2023-10-01 criteria provided, single submitter Retinal dystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.442 STARGARDT DISEASE 1 (disorder) Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the preval... UNIPROT 18977788 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) AND ABCA4-related disorder ClinVar Detail
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) AND Retinal dystrophy ClinVar Detail
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal re... 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
rs56357060 dbSNP
Genome
hg38
Position
chr1:94,030,483-94,030,483
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
49.16
Standard deviation of sample read depth (HGVD)
24.58
Number of reference allele (HGVD)
2404
Number of alternative allele (HGVD)
6
Allele Frequency (HGVD)
0.0024896265560165973
Gene Symbol (HGVD)
ABCA4
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs56357060
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0015
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
25
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
14
East Asian Heterozygous Counts (ExAC)
14
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0016181229773462784
Chromosome Counts in All Race (ExAC)
121380
Allele Counts in All Race (ExAC)
173
Heterozygous Counts in All Race (ExAC)
171
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0014252759927500412
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