ClinVar

NM_001193457.2(IFFO1):c.505C>T (p.Pro169Ser)

Genes:

LOC130007252:ATAC-STARR-seq lymphoblastoid silent region 4169 [Gene]
IFFO1:intermediate filament family orphan 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6555525 (on Assembly GRCh38)
• Chr12: 6664691 (on Assembly GRCh37)

Preferred name:

NM_001193457.2(IFFO1):c.505C>T (p.Pro169Ser)

HGVS:

• NC_000012.12:g.6555525G>A
• NG_187917.1:g.146G>A
• NM_001039670.3:c.505C>T
• NM_001193457.2:c.505C>TMANE SELECT
• NM_001330324.2:c.505C>T
• NM_001330325.2:c.505C>T
• NM_080730.5:c.505C>T
• NP_001034759.1:p.Pro169Ser
• NP_001180386.1:p.Pro169Ser
• NP_001317253.1:p.Pro169Ser
• NP_001317254.1:p.Pro169Ser
• NP_542768.2:p.Pro169Ser
• NC_000012.11:g.6664691G>A
• NM_001193457.1:c.505C>T
• NR_036467.2:n.518C>T

This HGVS expression did not pass validation

Protein change:

P169S

Molecular consequence:

• NM_001039670.3:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193457.2:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330324.2:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330325.2:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080730.5:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_036467.2:n.518C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]