ClinVar

NM_001079802.2(FKTN):c.444C>T (p.Asp148=)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.2

Genomic location:

• Chr9: 105604289 (on Assembly GRCh38)
• Chr9: 108366570 (on Assembly GRCh37)

Preferred name:

NM_001079802.2(FKTN):c.444C>T (p.Asp148=)

HGVS:

• NC_000009.12:g.105604289C>T
• NG_008754.1:g.51160C>T
• NM_001079802.2:c.444C>TMANE SELECT
• NM_001198963.2:c.444C>T
• NM_001351496.2:c.444C>T
• NM_001351497.2:c.375C>T
• NM_001351498.2:c.444C>T
• NM_001351499.2:c.48C>T
• NM_001351500.2:c.48C>T
• NM_001351501.2:c.48C>T
• NM_001351502.2:c.48C>T
• NM_006731.2:c.444C>T
• NP_001073270.1:p.Asp148=
• NP_001073270.1:p.Asp148=
• NP_001185892.1:p.Asp148=
• NP_001338425.1:p.Asp148=
• NP_001338426.1:p.Asp125=
• NP_001338427.1:p.Asp148=
• NP_001338428.1:p.Asp16=
• NP_001338429.1:p.Asp16=
• NP_001338430.1:p.Asp16=
• NP_001338431.1:p.Asp16=
• NP_006722.2:p.Asp148=
• LRG_434t1:c.444C>T
• LRG_434t2:c.444C>T
• LRG_434:g.51160C>T
• LRG_434p1:p.Asp148=
• LRG_434p2:p.Asp148=
• NC_000009.11:g.108366570C>T
• NM_001079802.1:c.444C>T
• NR_147213.2:n.659C>T
• NR_147214.2:n.567C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs759808323

NCBI 1000 Genomes Browser:

rs759808323

Molecular consequence:

• NR_147213.2:n.659C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_147214.2:n.567C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001079802.2:c.444C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001198963.2:c.444C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351496.2:c.444C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351497.2:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351498.2:c.444C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351499.2:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351500.2:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351501.2:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351502.2:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006731.2:c.444C>T - synonymous variant - [Sequence Ontology: SO:0001819]