ClinVar

NM_024622.6(FASTKD1):c.422C>T (p.Thr141Ile)

Gene:

FASTKD1:FAST kinase domains 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 169569208 (on Assembly GRCh38)
• Chr2: 170425718 (on Assembly GRCh37)

Preferred name:

NM_024622.6(FASTKD1):c.422C>T (p.Thr141Ile)

HGVS:

• NC_000002.12:g.169569208G>A
• NM_001281476.3:c.422C>T
• NM_001322046.2:c.422C>T
• NM_001322048.2:c.377+2445C>T
• NM_001322049.2:c.377+2445C>T
• NM_024622.6:c.422C>TMANE SELECT
• NP_001268405.1:p.Thr141Ile
• NP_001308975.1:p.Thr141Ile
• NP_078898.3:p.Thr141Ile
• NC_000002.11:g.170425718G>A
• NM_024622.3:c.422C>T
• NR_104020.3:n.761C>T

This HGVS expression did not pass validation

Protein change:

T141I

Molecular consequence:

• NM_001322048.2:c.377+2445C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322049.2:c.377+2445C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001281476.3:c.422C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322046.2:c.422C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024622.6:c.422C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104020.3:n.761C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]