ClinVar

NM_022168.4(IFIH1):c.1121G>A (p.Arg374His)

Gene:

IFIH1:interferon induced with helicase C domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.2

Genomic location:

• Chr2: 162282551 (on Assembly GRCh38)
• Chr2: 163139061 (on Assembly GRCh37)

Preferred name:

NM_022168.4(IFIH1):c.1121G>A (p.Arg374His)

HGVS:

• NC_000002.12:g.162282551C>T
• NG_011495.1:g.40979G>A
• NM_022168.4:c.1121G>AMANE SELECT
• NP_071451.2:p.Arg374His
• LRG_1235t1:c.1121G>A
• LRG_1235:g.40979G>A
• LRG_1235p1:p.Arg374His
• NC_000002.11:g.163139061C>T
• NM_022168.3:c.1121G>A

This HGVS expression did not pass validation

Protein change:

R374H

Links:

dbSNP: rs145520044

NCBI 1000 Genomes Browser:

rs145520044

Molecular consequence:

• NM_022168.4:c.1121G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3