ClinVar

NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His)

Gene:

NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 136504793 (on Assembly GRCh38)
• Chr9: 139399245 (on Assembly GRCh37)

Preferred name:

NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His)

HGVS:

• NC_000009.12:g.136504793C>T
• NG_007458.1:g.45994G>A
• NM_017617.4:c.4898G>A
• NM_017617.5:c.4898G>AMANE SELECT
• NP_060087.3:p.Arg1633His
• LRG_1122t1:c.4898G>A
• LRG_1122:g.45994G>A
• LRG_1122p1:p.Arg1633His
• NC_000009.11:g.139399245C>T
• NM_017617.3:c.4898G>A

This HGVS expression did not pass validation

Protein change:

R1633H

Links:

dbSNP: rs375018022

NCBI 1000 Genomes Browser:

rs375018022

Molecular consequence:

• NM_017617.5:c.4898G>A - missense variant - [Sequence Ontology: SO:0001583]