chr3:197680975:G>A Detail (hg19) (RPL35A, IQCG)

Information

Genome

Assembly Position
hg19 chr3:197,680,975-197,680,975
hg38 chr3:197,954,104-197,954,104 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001323028.1:c.-60+5425C>T
NM_001323029.1:c.-60+5425C>T
NM_032263.4:c.-60+5425C>T
Type Transcript Protein
RefSeq NM_000996.2:c.266G>A NP_000987.2:p.Arg89Gln
NM_001316311.1:c.266G>A NP_001303240.1:p.Arg89Gln
Ensemble ENST00000448864.6:c.266G>A ENST00000448864.6:p.Arg89Gln
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 Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 612477 OMIM
HGNC 25251 HGNC
Ensembl ENSG00000114473 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 180468 OMIM
HGNC 10345 HGNC
Ensembl ENSG00000182899 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
Benign 2024-01-19 criteria provided, multiple submitters, no conflicts Diamond-Blackfan anemia 5 germline Detail
Likely benign 2019-05-15 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) AND Diamond-Blackfan anemia 5 ClinVar Detail
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) AND not provided 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
rs145244860 dbSNP
Genome
hg19
Position
chr3:197,680,975-197,680,975
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8646
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)
120920
Allele Counts in All Race (ExAC)
82
Heterozygous Counts in All Race (ExAC)
82
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.781343036718491E-4
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