ClinVar

NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg)

Gene:

NIPAL4:NIPA like domain containing 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

• Chr5: 157472448 (on Assembly GRCh38)
• Chr5: 156899456 (on Assembly GRCh37)

Preferred name:

NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg)

HGVS:

• NC_000005.10:g.157472448G>A
• NG_016626.1:g.17430G>A
• NM_001099287.2:c.703G>AMANE SELECT
• NM_001172292.2:c.646G>A
• NP_001092757.1:p.Gly297Arg
• NP_001092757.2:p.Gly235Arg
• NP_001165763.1:p.Gly278Arg
• NP_001165763.2:p.Gly216Arg
• NC_000005.9:g.156899456G>A
• NM_001099287.1:c.889G>A
• NM_001172292.1:c.832G>A

This HGVS expression did not pass validation

Protein change:

G216R

Links:

dbSNP: rs375688767

NCBI 1000 Genomes Browser:

rs375688767

Molecular consequence:

• NM_001099287.2:c.703G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172292.2:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]