ClinVar

NM_013241.3(FHOD1):c.635C>T (p.Ala212Val)

Genes:

LOC126862378:BRD4-independent group 4 enhancer GRCh37_chr16:67271286-67272485 [Gene]
FHOD1:formin homology 2 domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 67238041 (on Assembly GRCh38)
• Chr16: 67271944 (on Assembly GRCh37)

Preferred name:

NM_013241.3(FHOD1):c.635C>T (p.Ala212Val)

HGVS:

• NC_000016.10:g.67238041G>A
• NG_029672.1:g.14482C>T
• NM_001318202.2:c.635C>T
• NM_013241.3:c.635C>TMANE SELECT
• NP_001305131.1:p.Ala212Val
• NP_037373.2:p.Ala212Val
• NC_000016.9:g.67271944G>A
• NM_013241.2:c.635C>T

This HGVS expression did not pass validation

Protein change:

A212V

Links:

dbSNP: rs587777904

NCBI 1000 Genomes Browser:

rs587777904

Molecular consequence:

• NM_001318202.2:c.635C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_013241.3:c.635C>T - missense variant - [Sequence Ontology: SO:0001583]