ClinVar

NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn)

Gene:

NHS:NHS actin remodeling regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 17728157 (on Assembly GRCh38)
• ChrX: 17746277 (on Assembly GRCh37)

Preferred name:

NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn)

HGVS:

• NC_000023.11:g.17728157G>A
• NG_011553.2:g.357738G>A
• NM_001136024.4:c.3520G>A
• NM_001291867.2:c.4051G>AMANE SELECT
• NM_001291868.2:c.3457G>A
• NM_198270.4:c.3988G>A
• NP_001129496.1:p.Asp1174Asn
• NP_001278796.1:p.Asp1351Asn
• NP_001278797.1:p.Asp1153Asn
• NP_938011.1:p.Asp1330Asn
• NC_000023.10:g.17746277G>A
• NM_198270.2:c.3988G>A
• NM_198270.3:c.3988G>A

This HGVS expression did not pass validation

Protein change:

D1153N

Links:

dbSNP: rs148418212

NCBI 1000 Genomes Browser:

rs148418212

Molecular consequence:

• NM_001136024.4:c.3520G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291867.2:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291868.2:c.3457G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198270.4:c.3988G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1