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NM_000518.5(HBB):c.128T>C (p.Phe43Ser)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Oct 10, 2018)
Last evaluated:
Dec 15, 2017
Accession:
VCV000015190.3
Variation ID:
15190
Description:
single nucleotide variant
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NM_000518.5(HBB):c.128T>C (p.Phe43Ser)

Allele ID
30229
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 5226764 (GRCh38) GRCh38 UCSC
11: 5247994 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P68871:p.Phe43Ser
NC_000011.10:g.5226764A>G
NC_000011.9:g.5247994A>G
... more HGVS
Protein change
F43S
Other names
F42S
Canonical SPDI
NC_000011.10:5226763:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA124890
UniProtKB: P68871#VAR_035239
OMIM: 141900.0100
dbSNP: rs34378160
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Dec 15, 2017 RCV000757359.2
HEMOGLOBIN HAMMERSMITH
other 1 no assertion criteria provided Dec 12, 2017 RCV000016371.5
HEMOGLOBIN CHIBA
other 1 no assertion criteria provided Dec 12, 2017 RCV000016372.5
Pathogenic 1 no assertion criteria provided Jun 1, 1988 RCV000016373.29
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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 1293
LOC106099062 - - - GRCh38 - 702
LOC107133510 - - - GRCh38 - 1226

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 15, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000885552.1
Submitted: (Oct 10, 2018)
Evidence details
other
(Dec 12, 2017)
no assertion criteria provided
Method: literature only
HEMOGLOBIN HAMMERSMITH
Allele origin: germline
OMIM
Accession: SCV000036639.5
Submitted: (Jul 20, 2016)
Evidence details
Publications
PubMed (3)
Dacie, J. V., Shinton, N. K.,  (more...)
Rahbar, S., Lee, T., Asmeron, Y. Hb  (more...)
other
(Dec 12, 2017)
no assertion criteria provided
Method: literature only
HEMOGLOBIN CHIBA
Allele origin: germline
OMIM
Accession: SCV000036640.5
Submitted: (Jul 20, 2016)
Evidence details
Publications
PubMed (3)
Dacie, J. V., Shinton, N. K.,  (more...)
Rahbar, S., Lee, T., Asmeron, Y. Hb  (more...)
Pathogenic
(Jun 01, 1988)
no assertion criteria provided
Method: literature only
HEINZ BODY HEMOLYTIC ANEMIA
Allele origin: germline
OMIM
Accession: SCV000036641.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)
Dacie, J. V., Shinton, N. K.,  (more...)
Rahbar, S., Lee, T., Asmeron, Y. Hb  (more...)

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
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Cotton RG Proceedings of the National Academy of Sciences of the United States of America 1988 PMID: 3260032
Hemoglobin Toluchi: beta 131 glutamine leads to glutamic acid, an example of Hb Camden in Japan. Ohba Y Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society 1975 PMID: 1173714
A Swiss family with hemoglobin P Galveston beta117His leads to Arg, including two patients with hb P/beta thalassemia. Di Iorio EE Blut 1975 PMID: 1164567
Dacie, J. V., Shinton, N. K., Gaffney, P. J., Jr., Carrell, R. W., Lehmann, H. Haemoglobin Hammersmith (beta 42 (CD 1) phe to ser). Nature 216: 663-665, 1967. - - - -
Rahbar, S., Lee, T., Asmeron, Y. Hb Beckman alpha135 (H13) ala-to-glu: a new unstable variant and reduced oxygen affinity. (Abstract) Blood 78 (suppl. 1): 204a, 1991. - - - -

Text-mined citations for rs34378160...

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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 Dec 04, 2021