(Q64401263)

English

NM_000277.2(PAH):c.1A>G (p.Met1Val)

gene variant

In more languages

Statements

sequence variant

1 reference

5 June 2019

https://erepo.genome.network/evrepo/ui/classification/CA114360/MONDO:0009861/006

medical condition

phenylketonuria

1 reference

5 June 2019

https://erepo.genome.network/evrepo/ui/classification/CA114360/MONDO:0009861/006

mode of inheritance

autosomal recessive

1 reference

5 June 2019

https://erepo.genome.network/evrepo/ui/classification/CA114360/MONDO:0009861/006

biological variant of

1 reference

5 June 2019

https://erepo.genome.network/evrepo/ui/classification/CA114360/MONDO:0009861/006

described by source

Novel PKU mutation on haplotype 2 in French-Canadians

1 reference

5 June 2019

https://erepo.genome.network/evrepo/ui/classification/CA114360/MONDO:0009861/006

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function

1 reference

5 June 2019

https://erepo.genome.network/evrepo/ui/classification/CA114360/MONDO:0009861/006

Identifiers

ClinVar Variation ID

1 reference

5 June 2019

https://erepo.genome.network/evrepo/ui/classification/CA114360/MONDO:0009861/006

dbSNP Reference SNP number

152

0 references

HGVS nomenclature

NM_000277.2:c.1A>G

0 references

NC_000012.12:g.102917130T>C

0 references

CM000674.2:g.102917130T>C

0 references

NC_000012.11:g.103310908T>C

0 references

CM000674.1:g.103310908T>C

0 references

NC_000012.10:g.101835038T>C

0 references

NG_008690.1:g.5473A>G

0 references

NG_008690.2:g.46281A>G

0 references

NM_000277.1:c.1A>G

0 references

XM_011538422.1:c.1A>G

0 references

NM_001354304.1:c.1A>G

0 references

XM_017019370.2:c.1A>G

0 references

NM_000277.3:c.1A>G

0 references

NST00000307000.7:c.-147A>G

0 references

ENST00000546844.1:c.1A>G

0 references

ENST00000547319.1:n.312A>G

0 references

ENST00000549111.5:n.97A>G

0 references

ENST00000551337.5:c.1A>G

0 references

ENST00000551988.5:n.90A>G

0 references

ENST00000553106.5:c.1A>G

0 references

ENST00000635500.1:n.29-4232A>G

0 references

NM_000277.2(PAH):c.1A>G (p.Met1Val)

0 references

Sitelinks

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