ClinVar

NM_001079802.2(FKTN):c.526T>G (p.Phe176Val)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.2

Genomic location:

• Chr9: 105604371 (on Assembly GRCh38)
• Chr9: 108366652 (on Assembly GRCh37)

Preferred name:

NM_001079802.2(FKTN):c.526T>G (p.Phe176Val)

HGVS:

• NC_000009.12:g.105604371T>G
• NG_008754.1:g.51242T>G
• NM_001079802.2:c.526T>GMANE SELECT
• NM_001198963.2:c.526T>G
• NM_001351496.2:c.526T>G
• NM_001351497.2:c.457T>G
• NM_001351498.2:c.526T>G
• NM_001351499.2:c.130T>G
• NM_001351500.2:c.130T>G
• NM_001351501.2:c.130T>G
• NM_001351502.2:c.130T>G
• NM_006731.2:c.526T>G
• NP_001073270.1:p.Phe176Val
• NP_001185892.1:p.Phe176Val
• NP_001338425.1:p.Phe176Val
• NP_001338426.1:p.Phe153Val
• NP_001338427.1:p.Phe176Val
• NP_001338428.1:p.Phe44Val
• NP_001338429.1:p.Phe44Val
• NP_001338430.1:p.Phe44Val
• NP_001338431.1:p.Phe44Val
• NP_006722.2:p.Phe176Val
• LRG_434t2:c.526T>G
• LRG_434:g.51242T>G
• LRG_434p2:p.Phe176Val
• NC_000009.11:g.108366652T>G
• NM_001079802.1:c.526T>G
• NR_147213.2:n.741T>G
• NR_147214.2:n.649T>G

This HGVS expression did not pass validation

Protein change:

F153V

Links:

dbSNP: rs746813994

NCBI 1000 Genomes Browser:

rs746813994

Molecular consequence:

• NM_001079802.2:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198963.2:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351496.2:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351497.2:c.457T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351498.2:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351499.2:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351500.2:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351501.2:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351502.2:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_006731.2:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_147213.2:n.741T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_147214.2:n.649T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1