ClinVar

NM_001291867.2(NHS):c.612C>T (p.Arg204=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

• ChrX: 17687788 (on Assembly GRCh38)
• ChrX: 17705908 (on Assembly GRCh37)

Preferred name:

NM_001291867.2(NHS):c.612C>T (p.Arg204=)

HGVS:

• NC_000023.11:g.17687788C>T
• NG_011553.2:g.317369C>T
• NM_001136024.4:c.81C>T
• NM_001291867.2:c.612C>TMANE SELECT
• NM_001291868.2:c.81C>T
• NM_198270.4:c.612C>T
• NP_001129496.1:p.Arg27=
• NP_001278796.1:p.Arg204=
• NP_001278797.1:p.Arg27=
• NP_938011.1:p.Arg204=
• NC_000023.10:g.17705908C>T
• NM_198270.3:c.612C>T

This HGVS expression did not pass validation

Links:

NCBI 1000 Genomes Browser:

rs777799752

Molecular consequence:

• NM_001136024.4:c.81C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001291867.2:c.612C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001291868.2:c.81C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198270.4:c.612C>T - synonymous variant - [Sequence Ontology: SO:0001819]