ClinVar

NM_014612.5(FAM120A):c.1418+233T>G

Gene:

FAM120A:family with sequence similarity 120 member A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.31

Genomic location:

• Chr9: 93516502 (on Assembly GRCh38)
• Chr9: 96278784 (on Assembly GRCh37)

Preferred name:

NM_014612.5(FAM120A):c.1418+233T>G

HGVS:

• NC_000009.12:g.93516502T>G
• NM_001286722.2:c.1415+233T>G
• NM_001286723.2:c.1418+233T>G
• NM_001286724.2:c.1418+233T>G
• NM_014612.5:c.1418+233T>GMANE SELECT
• NC_000009.11:g.96278784T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs4744253

NCBI 1000 Genomes Browser:

rs4744253

Molecular consequence:

• NM_001286722.2:c.1415+233T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286723.2:c.1418+233T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286724.2:c.1418+233T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_014612.5:c.1418+233T>G - intron variant - [Sequence Ontology: SO:0001627]