ClinVar

NM_022168.4(IFIH1):c.2189G>A (p.Ser730Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.2

Genomic location:

• Chr2: 162276802 (on Assembly GRCh38)
• Chr2: 163133312 (on Assembly GRCh37)

Preferred name:

NM_022168.4(IFIH1):c.2189G>A (p.Ser730Asn)

HGVS:

• NC_000002.12:g.162276802C>T
• NG_011495.1:g.46728G>A
• NM_022168.4:c.2189G>AMANE SELECT
• NP_071451.2:p.Ser730Asn
• LRG_1235t1:c.2189G>A
• LRG_1235:g.46728G>A
• LRG_1235p1:p.Ser730Asn
• NC_000002.11:g.163133312C>T

This HGVS expression did not pass validation

Protein change:

S730N

Links:

dbSNP: rs375745122

NCBI 1000 Genomes Browser:

rs375745122

Molecular consequence:

• NM_022168.4:c.2189G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3