Skip to main page content
Accesskeys

ClinVar Genomic variation as it relates to human health

Advanced search

NM_031935.2(HMCN1):c.4163del (p.Pro1388Hisfs)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 13, 2015)
Last evaluated:
Jul 1, 2015
Accession:
VCV000217863.1
Variation ID:
217863
Description:
1bp deletion
Help

NM_031935.2(HMCN1):c.4163del (p.Pro1388Hisfs)

Allele ID
214519
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1q31.1
Genomic location
1: 186001391 (GRCh38) GRCh38 UCSC
1: 185970523 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.185970523delC
NC_000001.11:g.186001391delC
NM_031935.2:c.4163del NP_114141.2:p.Pro1388Hisfs
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 608548.0002
dbSNP: rs879255520
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jul 1, 2015 RCV000201932.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HMCN1 - - GRCh38
GRCh37
269 291

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 01, 2015)
no assertion criteria provided
Method: literature only
MACULAR DEGENERATION, AGE-RELATED, 1
Allele origin: germline
OMIM
Accession: SCV000256827.1
Submitted: (Nov 13, 2015)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration. Pras E Journal of medical genetics 2015 PMID: 25986072

Record last updated Jun 17, 2019