ClinVar

NM_024622.6(FASTKD1):c.2230T>A (p.Tyr744Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 169531449 (on Assembly GRCh38)
• Chr2: 170387959 (on Assembly GRCh37)

Preferred name:

NM_024622.6(FASTKD1):c.2230T>A (p.Tyr744Asn)

HGVS:

• NC_000002.12:g.169531449A>T
• NM_001281476.3:c.2101T>A
• NM_001322046.2:c.2230T>A
• NM_001322048.2:c.2161T>A
• NM_001322049.2:c.2032T>A
• NM_024622.6:c.2230T>AMANE SELECT
• NP_001268405.1:p.Tyr701Asn
• NP_001308975.1:p.Tyr744Asn
• NP_001308975.1:p.Tyr744Asn
• NP_001308977.1:p.Tyr721Asn
• NP_001308978.1:p.Tyr678Asn
• NP_078898.3:p.Tyr744Asn
• NC_000002.11:g.170387959A>T
• NM_001322046.1:c.2230T>A
• NR_104020.3:n.2436T>A
• p.Y744N

This HGVS expression did not pass validation

Protein change:

Y678N

Links:

dbSNP: rs1553534421

NCBI 1000 Genomes Browser:

rs1553534421

Molecular consequence:

• NM_001281476.3:c.2101T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322046.2:c.2230T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322048.2:c.2161T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322049.2:c.2032T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024622.6:c.2230T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104020.3:n.2436T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

Uncertain function