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NM_007074.3(CORO1A):c.248_249del

Variation ID: Help
40886
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 1, 2014
Number of submission(s):
1
Condition(s):
Immunodeficiency 8[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_007074.3(CORO1A):c.248_249delCT (p.Pro83Argfs)

Allele ID:
49379
Variant type:
Deletion
Cytogenetic location:
16p11.2
Genomic location:
  • Chr16: 30186647 - 30186648 (on Assembly GRCh38)
  • Chr16: 30197968 - 30197969 (on Assembly GRCh37)
HGVS:
  • NG_023415.1:g.8043_8044delCT
  • NM_001193333.2:c.248_249delCT
  • NM_007074.3:c.248_249delCT
  • NP_001180262.1:p.Pro83Argfs
  • NP_009005.1:p.Pro83Argfs
  • NC_000016.10:g.30186647_30186648delCT (GRCh38)
  • NC_000016.9:g.30197968_30197969delCT (GRCh37)
  • NM_007074.3:c.248_249del
  • LRG_195p1:p.Pro83Argfs
  • LRG_195:g.8043_8044delCT
Links:
NCBI 1000 Genomes Browser:
rs606231246
Molecular consequence:
NM_001193333.2:c.248_249delCT: frameshift variant [Sequence Ontology SO:0001589]

Assertions for related alleles

NM_007074.3(CORO1A):c.[1078delC];[248_249delCT]

Clinical significance:
Pathogenic
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Oct 1, 2014)
no assertion criteria providedliterature onlygermlineOMIMSCV000057764.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017