NM_000558.5(HBA1):c.275T>C (p.Leu92Pro) AND HEMOGLOBIN PORT PHILLIP

Germline classification:: other (1 submission)
Last evaluated:: Jul 20, 2016
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000017143.3

Allele description [Variation Report for NM_000558.5(HBA1):c.275T>C (p.Leu92Pro)]

NM_000558.5(HBA1):c.275T>C (p.Leu92Pro)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000558.5(HBA1):c.275T>C (p.Leu92Pro)

Other names:

L91P

HGVS:

NC_000016.10:g.177108T>C
NG_000006.1:g.37971T>C
NG_046166.1:g.2591T>C
NG_059186.1:g.5458T>C
NM_000558.5:c.275T>CMANE SELECT
NP_000549.1:p.Leu92Pro
LRG_1225t1:c.275T>C
LRG_1225:g.5458T>C
LRG_1225p1:p.Leu92Pro
NC_000016.9:g.227107T>C
P69905:p.Leu92Pro

Protein change:

L92P; LEU91PRO

Links:

UniProtKB: P69905#VAR_002812; OMIM: 141800.0119; dbSNP: rs34684963

NCBI 1000 Genomes Browser:

rs34684963

Molecular consequence:

NM_000558.5:c.275T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN PORT PHILLIP
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037415	OMIM	no assertion criteria provided	other (Jul 20, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037415

OMIM

no assertion criteria provided

other
(Jul 20, 2016)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Haemoglobin Port Phillip alpha91 (FG3) Leu replaced by Pro, a new unstable haemoglobin.

Brennan SO, Tauro GP, Melrose W.

FEBS Lett. 1977 Sep 1;81(1):115-7. No abstract available.

PubMed [citation]

PMID:: 902765

Details of each submission

From OMIM, SCV000037415.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

See Brennan et al. (1977).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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