ClinVar

NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

• Chr1: 215675336 (on Assembly GRCh38)
• Chr1: 215848678 (on Assembly GRCh37)

Preferred name:

NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)

HGVS:

• NC_000001.11:g.215675336C>T
• NG_009497.2:g.753113G>A
• NM_206933.3:c.12575G>A
• NM_206933.4:c.12575G>AMANE SELECT
• NP_996816.3:p.Arg4192His
• NC_000001.10:g.215848678C>T
• NG_009497.1:g.753061G>A
• NM_206933.2:c.12575G>A
• NM_206933.3(USH2A):c.12575G>A
• NM_206933.4:c.12575G>A
• O75445:p.Arg4192His

This HGVS expression did not pass validation

Protein change:

R4192H

Links:

UniProtKB: O75445#VAR_068358; dbSNP: rs199605265

NCBI 1000 Genomes Browser:

rs199605265

Molecular consequence:

• NM_206933.4:c.12575G>A - missense variant - [Sequence Ontology: SO:0001583]