ClinVar

NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His)

Gene:

RSPH4A:radial spoke head component 4A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.1

Genomic location:

• Chr6: 116630515 (on Assembly GRCh38)
• Chr6: 116951678 (on Assembly GRCh37)

Preferred name:

NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His)

HGVS:

• NC_000006.12:g.116630515A>C
• NG_012934.1:g.19037A>C
• NM_001010892.3:c.1879A>CMANE SELECT
• NM_001161664.2:c.1743A>C
• NP_001010892.1:p.Asn627His
• NP_001155136.1:p.Pro581=
• NC_000006.11:g.116951678A>C
• NM_001010892.2:c.1879A>C
• Q5TD94:p.Asn627His

This HGVS expression did not pass validation

Protein change:

N627H

Links:

UniProtKB: Q5TD94#VAR_037718; dbSNP: rs9488991

NCBI 1000 Genomes Browser:

rs9488991

Molecular consequence:

• NM_001010892.3:c.1879A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001161664.2:c.1743A>C - synonymous variant - [Sequence Ontology: SO:0001819]