ClinVar

NM_001291303.3(FAT4):c.1545C>T (p.Val515=)

Gene:

FAT4:FAT atypical cadherin 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q28.1

Genomic location:

• Chr4: 125317956 (on Assembly GRCh38)
• Chr4: 126239111 (on Assembly GRCh37)

Preferred name:

NM_001291303.3(FAT4):c.1545C>T (p.Val515=)

HGVS:

• NC_000004.12:g.125317956C>T
• NG_033865.1:g.6545C>T
• NG_033865.2:g.8003C>T
• NM_001291285.3:c.1545C>T
• NM_001291303.3:c.1545C>TMANE SELECT
• NM_024582.6:c.1545C>T
• NP_001278214.1:p.Val515=
• NP_001278232.1:p.Val515=
• NP_078858.4:p.Val515=
• NC_000004.11:g.126239111C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001291285.3:c.1545C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001291303.3:c.1545C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024582.6:c.1545C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1