GENETIC ENCYCLOPEDIA
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NM_153700.2(STRC):c.4219-1G>A AND multiple conditions

Significance: Likely pathogenic
ClinVar: RCV000763351

Variant: NM_153700.2(STRC):c.4219-1G>A

Type: Variant
Allele: NM_153700.2(STRC):c.4219-1G>A 497248
Gene:
Type: single nucleotide variant
Location: Chr15: 43896351 - assembly GRCh37
Chr15: 43604153 - assembly GRCh38
References: dbSNP: 748854592

Conditions

Disease: CATSPER-Related Male Infertility
Disease: Deafness, autosomal recessive 16
Disease: Deafness-infertility syndrome