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NM_000518.5(HBB):c.327C>R (p.Asn109Lys)

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Interpretation:
other​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 20, 2016)
Last evaluated:
Dec 12, 2017
Accession:
VCV000015318.2
Variation ID:
15318
Description:
single nucleotide variant
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NM_000518.5(HBB):c.327C>R (p.Asn109Lys)

Allele ID
30357
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 5225715 (GRCh38) GRCh38 UCSC
11: 5246945 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.5246945G>Y
NG_046672.1:g.3650G>Y
NG_053049.1:g.2036G>Y
... more HGVS
Protein change
N109K
Other names
N108K
Canonical SPDI
NC_000011.10:5225714:G:Y
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 141900.0226
dbSNP: rs34933751
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
HEMOGLOBIN PRESBYTERIAN
other 1 no assertion criteria provided Dec 12, 2017 RCV000016558.7
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HBB - - GRCh38
GRCh37
45 1290
LOC107133510 - - - GRCh38 - 1223
LOC110006319 - - - GRCh38 - 573

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
other
(Dec 12, 2017)
no assertion criteria provided
Method: literature only
HEMOGLOBIN PRESBYTERIAN
Allele origin: germline
OMIM
Accession: SCV000036826.7
Submitted: (Jul 20, 2016)
Evidence details
Publications
PubMed (5)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Model mice for Presbyterian hemoglobinopathy (Asn(beta108)-->Lys) confer hemolytic anemia with altered oxygen affinity and instability of Hb. Suzuki Y Biochemical and biophysical research communications 2002 PMID: 12127975
Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level. Schnee J Human genetics 1990 PMID: 2307460
Haemoglobin Presbyterian [beta 108 (G 10) Asn----Lys] in a Spanish family. Villegas A Acta haematologica 1986 PMID: 3101357
DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene. Horst J Human genetics 1983 PMID: 6309649
Hemoglobin Ohio (beta 142 Ala replaced by): a new abnormal hemoglobin with high oxygen affinity and erythrocytosis. Moo-Penn WF Blood 1980 PMID: 7397380

Text-mined citations for rs34933751...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 16, 2021