chr1:36472313:G>A Detail (hg38) (CSF3R)

Information

Genome

Assembly Position
hg19 chr1:36,937,914-36,937,914 View the variant detail on this assembly version.
hg38 chr1:36,472,313-36,472,313

HGVS

Type Transcript Protein
RefSeq NM_156039.3:c.922C>T NP_724781.1:p.Arg308Cys
NM_172313.2:c.922C>T NP_758519.1:p.Arg308Cys
NM_000760.3:c.922C>T NP_000751.1:p.Arg308Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 138971 OMIM
HGNC 2439 HGNC
Ensembl ENSG00000119535 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6941723 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-06-01 criteria provided, single submitter severe congenital neutropenia germline Detail
Likely pathogenic 2023-06-17 criteria provided, single submitter Autosomal recessive severe congenital neutropenia due to CSF3R deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.135 severe congenital neutropenia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) AND Severe congenital neutropenia ClinVar Detail
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) AND Autosomal recessive severe congenital neutropenia due ... 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
rs606231473 dbSNP
Genome
hg38
Position
chr1:36,472,313-36,472,313
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser