ClinVar

NM_022489.4(INF2):c.149A>C (p.Tyr50Ser)

Gene:

INF2:inverted formin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.33

Genomic location:

• Chr14: 104701514 (on Assembly GRCh38)
• Chr14: 105167851 (on Assembly GRCh37)

Preferred name:

NM_022489.4(INF2):c.149A>C (p.Tyr50Ser)

HGVS:

• NC_000014.9:g.104701514A>C
• NG_027684.1:g.16909A>C
• NM_001031714.4:c.149A>C
• NM_022489.4:c.149A>CMANE SELECT
• NM_032714.3:c.149A>C
• NP_001026884.3:p.Tyr50Ser
• NP_071934.3:p.Tyr50Ser
• NP_116103.1:p.Tyr50Ser
• NC_000014.8:g.105167851A>C
• NM_022489.3:c.149A>C

This HGVS expression did not pass validation

Protein change:

Y50S

Links:

dbSNP: rs730880113

NCBI 1000 Genomes Browser:

rs730880113

Molecular consequence:

• NM_001031714.4:c.149A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_022489.4:c.149A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_032714.3:c.149A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1