IthaID: 3096


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs146922325 HGVS Name: NG_016323.1:g.12695C>T

Context nucleotide sequence:
GTTCCCTTGTGGGAGGCCCTGGAAG [C/T] GGATGGAGAAGAAGCGCAGTCACCT (Strand: +)

Protein sequence:
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGRPWKWMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP

Also known as:

Comments: SNP was found in a splenectomized patient with HbH disease and recurrent thromboembolism. It is the most frequent cause of protein C deficiency and a major risk factor for venous thrombosis in Chinese individuals.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Thromboembolism [HP:0001907]

Location

Chromosome: 2
Locus: NG_016323.1
Locus Location: 12695
Size: 1 bp
Located at: PROC
Specific Location: Exon 7

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese Han
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Sun NA, Cheng P, Deng DH, Liu RR, Lai YR, Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report., Biomed Rep , 5(1), 23-26, 2016
Created on 2016-09-14 16:43:25, Last reviewed on 2016-09-16 08:59:11 (Show full history)

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