ClinVar

NM_001010892.3(RSPH4A):c.686+229C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.1

Genomic location:

• Chr6: 116617538 (on Assembly GRCh38)
• Chr6: 116938701 (on Assembly GRCh37)

Preferred name:

NM_001010892.3(RSPH4A):c.686+229C>T

HGVS:

• NC_000006.12:g.116617538C>T
• NG_012934.1:g.6060C>T
• NM_001010892.3:c.686+229C>TMANE SELECT
• NM_001161664.2:c.686+229C>T
• NC_000006.11:g.116938701C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs72950475

NCBI 1000 Genomes Browser:

rs72950475

Molecular consequence:

• NM_001010892.3:c.686+229C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001161664.2:c.686+229C>T - intron variant - [Sequence Ontology: SO:0001627]